Almundher Al-Maawali

Almundher Al-Maawali
Sultan Qaboos University | SQU · Department of Genetics

MD

About

53
Publications
6,522
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710
Citations
Citations since 2016
30 Research Items
538 Citations
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2016201720182019202020212022020406080100120140
2016201720182019202020212022020406080100120140
2016201720182019202020212022020406080100120140
Introduction

Publications

Publications (53)
Article
Full-text available
Global Developmental Delay/Intellectual disability (ID) is the term used to describe various disorders caused by abnormal brain development and characterized by impairments in cognition, communication, behavior, or motor skills. In the past few years, whole-exome sequencing (WES) has been proven to be a powerful, robust, and scalable approach for c...
Article
Next-generation sequencing, such as whole-exome sequencing (WES), is increasingly used in the study of Mendelian disorders, yet many are reported as “negative.” Inappropriate variant annotation and filtering steps are reasons for missing the molecular diagnosis. Noncoding variants, including splicing mutations, are examples of variants that can be...
Article
Spondyloepimetaphyseal dysplasia-Shohat type (SEMDSH) is an ultra-rare type of skeletal dysplasia. Only nine patients from six families have been reported and genetically confirmed to have biallelic pathogenic variants in the DDRGK1 gene. We present a patient with typical clinical features of the disorder, including disproportionate short-limbed sh...
Preprint
Full-text available
Arthrogryposis multiplex congenita forms a broad group of clinically and etiologically heterogeneous disorders characterized by congenital joint contractures that involve at least two different parts of the body. Neurological and muscular disorders are commonly underlying arthrogryposis. Here, we report five affected individuals from three independ...
Preprint
Full-text available
DRG1 is a highly conserved member of a class of GTPases implicated in ribosome biogenesis and translation. The expression of mammalian DRG1 is elevated in the central nervous system during development, and its function has been implicated in fundamental cellular processes including protein synthesis and cellular proliferation. Using exome sequencin...
Article
Full-text available
Studies on the acceptance of prenatal diagnosis and termination of pregnancy for single gene disorders within Islamic societies in the Middle East are limited. A few have examined the attitudes toward pregnancy termination for fetal indications, but a dearth of published data exists on actual behavior and uptake. This study reports on all prenatal...
Article
Full-text available
The hereditary spastic paraplegias (HSP) are among the most genetically diverse of all Mendelian disorders. They comprise a large group of neurodegenerative diseases that may be divided into ‘pure HSP’ in forms of the disease primarily entailing progressive lower-limb weakness and spasticity, and ‘complex HSP’ when these features are accompanied by...
Article
Alazami syndrome (AS) is an autosomal recessive condition characterized by the cardinal features of severe growth restriction, moderate to severe intellectual disability, and distinctive facial features. Biallelic pathogenic variants of the LARP7, encoding a chaperone of 7SK noncoding RNA, is implicated in this disease. There are <35 reported cases...
Article
Full-text available
Familial hypertriglyceridemia (F-HTG) is an autosomal disorder that causes severe elevation of serum triglyceride levels. It is caused by genetic alterations in LPL, APOC2, APOA5, LMF1, and GPIHBP1 genes. The mutation spectrum of F-HTG in Arabic populations is limited. Here, we report the genetic spectrum of six families of F-HTG of Arab ancestry i...
Article
Covalent tRNA modifications play multi-faceted roles in tRNA stability, folding, and recognition, as well as the rate and fidelity of translation, and other cellular processes such as growth, development, and stress responses. Mutations in genes that are known to regulate tRNA modifications lead to a wide array of phenotypes and diseases including...
Article
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Multiple factors control the growth of a child, including genetics, nutrition, and socioeconomic factors. Referral of tallboys who are otherwise well is very rare. However, sometimes, extraordinary tall stature for the age can be a cause of great concern to the parents. We report a case of an Omani child with a de novo mutation of NSD1 that led to...
Article
Bilateral renal agenesis belongs to a group of perinatal lethal renal diseases. To date, pathogenic variants in three genes (ITGA8, GREB1L, and FGF20) have been shown to cause renal agenesis in humans. Recently GFRA1 has been linked to a phenotype consistent with a nonsyndromic form of bilateral renal agenesis. GFRA1 encodes a member of the glial c...
Article
Background: PTRHD1 was proposed as a disease-causing gene of intellectual disability, spasticity, and parkinsonism. Objectives: To characterize the clinical phenotype and the molecular cause of intellectual disability in four affected individuals of a consanguineous family. Methods: Clinical evaluation, whole-exome sequencing, Sanger sequencin...
Article
Full-text available
We have previously described a heart-, eye-, and brain-malformation syndrome caused by homozygous loss-of-function variants in SMG9, which encodes a critical component of the nonsense-mediated decay (NMD) machinery. Here, we describe four consanguineous families with four different likely deleterious homozygous variants in SMG8, encoding a binding...
Article
Failure to thrive (FTT) causes significant morbidity, often without clear etiologies. Six individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Standard diagnostic work up did not ascertain an etiology. Autozygosity mapping and whole exome sequencing identified hom...
Article
Full-text available
Phosphoinositides (PIPs) and their regulatory enzymes are key players in many cellular processes and are required for aspects of vertebrate development. Dysregulated PIP metabolism has been implicated in several human diseases, including a subset of skeletal myopathies that feature structural defects in the triad. The role of PIPs in skeletal muscl...
Article
Full-text available
Arthrogryposis multiplex congenita (AMC) is an important birth defect with a significant genetic contribution. Many syndromic forms of AMC have been described, but remain unsolved at the molecular level. In this report, we describe a novel syndromic form of AMC in two multiplex consanguineous families from Saudi Arabia and Oman. The phenotype is hi...
Preprint
Full-text available
Phosphoinositides (PIPs) and their regulatory enzymes are key players in many cellular processes and are required for aspects of vertebrate development. Dysregulated PIP metabolism has been implicated in several human diseases, including a subset of skeletal myopathies that feature structural defects in the triad. The role of PIPs in skeletal muscl...
Article
Andermann syndrome, otherwise known as agenesis of the corpus callosum with peripheral neuropathy (ACCPN), is an autosomal recessive motor and sensory neuropathy known to be associated with ACC and mild-to-moderate intellectual disability. We present a 7-year-old girl with infantile-onset hypotonia, mild intellectual disability, and severe motor an...
Article
Full-text available
Intellectual disability (ID) is the most common diagnosis noted among children with genetic disorders. It causes social and economic burden to families and communities. The genetic causes are not completely understood, and there is significant heterogeneity. Recently, a new chromosomal X-linked syndrome was reported to cause ID. Four males were des...
Article
Full-text available
Phosphoinositides (PIPs) are a ubiquitous group of seven low-abundance phospholipids that play a crucial role in defining localized membrane properties and that regulate myriad cellular processes, including cytoskeletal remodeling, cell signaling cascades, ion channel activity and membrane traffic. PIP homeostasis is tightly regulated by numerous i...
Article
Cardiomyopathies are clinically heterogeneous disorders and are the leading cause of cardiovascular morbidity and mortality. Different etiologies have a significant impact on prognosis. Recently, novel biallelic loss‐of‐function pathogenic variants in alpha‐kinase 3 (ALPK3) were implicated in causing early‐onset pediatric cardiomyopathy (cardiomyop...
Article
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Several types of Hermansky-Pudlak syndromes (HPS) represent a group of immunodeficiency syndromes that feature both leukocyte defects with partial albinism of hair, skin, and eyes. These conditions share defects in genes that encode proteins involved in the biogenesis, function, and trafficking of secretory lysosomes. Mutations in AP3D1 which encod...
Article
Recently, with the advancement in Next Generation Sequencing (NGS) along with the improvement of bioinformatics tools, Whole Exome Sequencing (WES) has become the most efficient diagnostic test for patients with intellectual disability (ID). This study aims to estimate the yield of a reanalysis of ID negative exome cases after data re‐annotation. T...
Article
Aminoacyl‐tRNA synthetases (ARSs) canonical function is to conjugate specific amino acids to cognate tRNA that are required for the first step of protein synthesis. Genetic mutations that cause dysfunction or absence of ARSs result in various neurodevelopmental disorders. The human phenylalanine‐tRNA synthetase (PheRS) is a tetrameric protein made...
Article
Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in...
Article
Full-text available
Introduction Infantile neuroaxonal dystrophy (INAD), an autosomal recessive neurodegenerative disorder due to PLA2G6 mutation, is classified both as a PLA2G6-associated neurodegeneration (PLAN) disorder and as one of the neurodegeneration with brain iron accumulation (NBIA) disorders. Age of onset and clinical presentation in INAD is variable. Typi...
Article
Evaluation of imaging studies of the cerebellum in inherited neurodegenerative disorders is aided by attention to neuroimaging patterns based on anatomic determinants, including biometric analysis, hyperintense signal of structures, including the cerebellar cortex, white matter, dentate nuclei, brainstem tracts, and nuclei, the presence of cysts, b...
Article
Exome sequencing identified homozygous loss-of-function variants in DIAPH1 (c.2769delT; p.F923fs and c.3145C>T; p.R1049X) in four affected individuals from two unrelated consanguineous families. The affected individuals in our report were diagnosed with postnatal microcephaly, early-onset epilepsy, severe vision impairment, and pulmonary symptoms i...
Article
Despite recent advances in understanding the genetic bases of microcephaly, a large number of cases of microcephaly remain unexplained, suggesting that many microcephaly syndromes and associated genes have yet to be identified. Here, we report mutations in PYCR2, which encodes an enzyme in the proline biosynthesis pathway, as the cause of a unique...
Article
PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). We describe a novel phenotype associated with decreased PRS-1 function in two a...
Article
Full-text available
Background: Neonatal severe primary hyperparathyroidism (NSHPT, MIM 239200) is most often an isolated disorder that is due to biallelic inactivating mutations in the CASR, the gene encoding the calcium sensing receptor; NSHPT is inherited from parents with familial hypocalciuric hypercalcemia, each of whom has one mutated CASR allele. Objectives:...
Article
We report on a male patient with a submicroscopic 1.21 Mb de novo deletion at 12q21.33-q22 with global developmental delay, characteristic facial features, and keratosis pilaris. Thus far, five other cases with a 12q de novo deletion including this segment have been reported; our case represents the smallest de novo deletion within this chromosome...
Article
The aim of this study was to identify clinical and radiological predictors of activities of daily living (ADL) outcomes in children with cerebellar atrophy. Over a period of 5 years, we evaluated 44 participants (25 males, 19 females) children with confirmed cerebellar atrophy using magnetic resonance imaging (MRI). The median age at the time of as...
Article
Infants with phosphomannomutase 2 - congenital disorder of glycosylation (PMM2-CDG), formerly known as CDG1a, present with failure to thrive, visceral dysfunction, thromboembolic events and developmental delays noted before 6 months of age. Diagnosis is often delayed due to the considerable variability in phenotype. Characteristic, but not universa...
Article
We report on a 46,XY female with pontocerebellar hypoplasia and intellectual disability. To our knowledge, this is the fourth reported patient with this constellation and further confirms a rare new syndrome. The condition is probably a single gene disorder with a currently unknown mode of inheritance. The causative gene is likely involved in the n...
Article
Complex II deficiency is a rare cause of mitochondrial respiratory chain defects with a prevalence of 2-23%. It is exclusively nuclear encoded and functions in the citric acid cycle by oxidizing succinate to fumarate and in the mitochondrial electron transport chain (ETC) by transferring electrons to ubiquinone. Of the four subunits, SDHA and SDHB...
Article
Full-text available
The aim of this study was to look at the spectrum of paediatric lysosomal disorders in Oman. Lysosomal storage disorders (LSDs) are a heterogeneous group of inherited metabolic diseases. Few studies on the birth prevalence and prevalence of LSDs have been reported from the Arabian Peninsula. We studied 86 children with LSDs diagnosed over a period...
Article
Hereditary ataxias associated with cerebellar atrophy are a heterogeneous group of disorders. Selection of appropriate clinical and genetic tests for patients with cerebellar atrophy poses a diagnostic challenge. Neuroimaging is a crucial initial investigation in the diagnostic evaluation of ataxia in childhood, and the presence of cerebellar atrop...
Article
Angelman syndrome is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, seizures, microcephaly, and severe speech delay. It may be caused by deletion of chromosome region 15q11.2 of the maternally inherited chromosome, mutations in the UBE3A gene, uniparental disomy, or imprinting defects. Most patients w...
Article
Full-text available
Hyperekplexia is characterized by neonatal hypertonia and exaggerated startle reflex in response to loud noise or tactile stimuli. Mutations in patients with hyperekplexia were evident in several genes encoding proteins involved in glycinergic neurotransmission, i.e., glycine receptor α and β subunits, collybistin, gephyrin, and glycine transporter...
Article
Full-text available
There is a dearth of studies examining the relationship between research output and other socio-demographic indicators in the Gulf Cooperation Council (GCC) countries (Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, and the United Arab Emirates). The three interrelated aims of this study were, first, to ascertain the number of biomedical publications i...
Article
Full-text available
Question: One of my 35-year-old pregnant patients has been treated with enalapril for primary hypertension. She learned she was pregnant at 11 weeks' gestation. I read somewhere that angiotensin-converting enzyme (ACE) inhibitors can cause malformations. What advice do you give to Motherisk callers? Answer: Most published studies have failed to...
Article
Studies of 1st trimester exposure to ACE inhibitors and angiotensin receptor blockers examining teratogenicity have shown conflicting results. We systematically reviewed the literature and performed a meta-analysis evaluating the risk of major malformations. For the meta-analysis, we included studies comparing 1st trimester exposure to no exposure,...
Article
Spastic paraplegia Type 3A is an autosomal-dominant pure or uncomplicated hereditary spastic paraplegia. It is caused by mutations in SPG3A, the only gene associated with this condition. We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia. This expands the spectrum of neurologic...
Article
Full-text available
Merosin-deficient congenital muscular dystrophy is an autosomal recessive disease that can manifest differently in different ethnic groups. This often presents as a floppy infant, and normal mental development. The creatine kinase is usually elevated with white matter abnormalities on brain imaging. In this report, we describe an infant with Merosi...

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Project (1)
Project
The Effectiveness of Exercises According to some Mechanical Variables to Improve Scoring Accuracy for Handball Corner Players Researcher Supervisor Safwan Younis Al-Badrany Prof. Dr. Muhammad Kh. Al-Igeidi New technical tools have contributed to aid researchers and coaches, working in the field of physical education, in changing and overcoming old and classical training tools and techniques, bringing them out of prediction and coincidence domain to the one employing modern scientific tools that serve sport achievement. Knowing the impact of sport training on developing skill and physical characteristics in various sports through studying the mechanic variables, besides using modern adequate training techniques and incorporating mechanic theories and their application in field training, all this enables us to improve sport technique getting the player to the ideal performance. The main goal for biomechanics is investigating the application of its laws on living bodies to achieve high performance. Moreover, through knowing the laws of motion results can be estimated and detecting performance errors can be facilitated. Biomechanics utilizes developed technology continuously going along with the huge progress witnessed by the world in all fields of science and knowledge. Team games have attracted the attention of players, spectators, and researchers; one of these games is handball which depends in its mastery on the right and adequate technique in training methods as it is a compound activity that relies on players' gathered efforts and its success depends on continuing cooperation and right mastery of the basic skills during training and competitions. Scoring is one of these skills; it comes under the attacking skills which include various types of shooting done by players according to the plan given to them and their play positions. One of these positions is the one of the corner player, which is considered one of the significant positions on which world leading teams rely in settling the results of final matches, through ensuring correct standing during attacking, the ability to surprise the defenders and the goal keeper, proper break through, and scoring from the 6 m line. Selecting the corner player as the effective player in the team is due to the fact that the other team's pressing defense is becoming more fierce in limiting the attackers movement in the mid of the playing field more than focusing on the position of the corner player. Thus, it is necessary to choose the adequate training methods that support corner players through body feint in addition of nimbleness, speed, and flexibility. This is achieved through designing exercises that develop players' performance by utilizing biomechanics through analyzing mechanic variables and identifying their effect on the improvement of performance and the accuracy of scoring for novice players which need to learn the perfect performance technique so that they can achieve the best future for handball game on the local, Arab, and world levels. According to what has been mentioned earlier, the significance of this study lies in preparing special exercises that contribute to developing the movement of the corner player, through the progress occurring in some mechanic variables of the players, i.e. identifying the effectiveness of these exercises through comparing the results of the pre and post-tests of the study sample. This study aims at: 1- Identifying the values of some mechanic variables for the pre-test of scoring from the corner, by the novice players of Nineveh province handball team. 2- Identifying accuracy values for the pre-test of scoring from the corner, by the novice players of Nineveh province handball team. 3- Identifying the values of some mechanic variables for the post-test of scoring from the corner, by the novice players of Nineveh province handball team. 4- Identifying accuracy values for the post-test of scoring from the corner, by the novice players of Nineveh province handball team. 5- Identifying the differences in the values of some biomechanical variables between the pre and post-tests and the effectiveness of the exercises given to the novice corner players of Nineveh province handball team. 6- Identifying the differences in the accuracy values between the pre and post-tests and the effectiveness of the exercises given to the novice corner players of Al-Futuwa handball team. The researcher hypothesizes that there are significant differences between the pre and post-tests in the values of some mechanical variables of scoring from the corner and accuracy values for the novice players in Al-Futuwa handball team, in favor of the post-test. The study involves the following fields: 1- Human field: Al-Futuwa handball team novice corner players in Nineveh province . 2- Place field: Al-Futuwa sport team's closed hall in Nineveh province and the closed hall of the single games branch at the College of Physical Education – University of Mosul. 3- Time field: 1/11/2013 – 1/5/2014. The research sample consists of eight novice handball players in Nineveh province, who use their right hand in scoring. The researcher has used the experimental method for its convenience to the nature of the research. Filming has been done to the pre and post-tests which included giving number of exercises within the training units of the team. The total was 24 units, held in 8 weeks with 3 units / day. Data collection tools were (questionnaire, interview, measurement, test, and scientific technical observation). Two CASIO video cameras were used. The first one was put in a distance of (3.70 m) from the left side of the player, with (1.35 m) height of the lens focus off the ground. The second camera was put in a distance of (4.30 m) from the right side of the player, with (1.35 m) height of the lens focus off the ground too. Filming speed for both video cameras was (420 photos / second). The researcher has kept the same measures in the pre and post-tests. As for the statistical functions, the researcher has used the arithmetic mean, standard deviation, coefficient of variation, and T test for the independent and dependent samples. In the light of the achieved results, the researcher has come to the following conclusions: 1- The effectiveness of the training units exercises for novice corner players in Al-Futuwa handball team in Nineveh province through the development occurring in the values of some mechanical variables between the pre and post-tests of the research sample through the resulting differences. 2- There are differences in the accuracy values of scoring from the corner between the pre and post-tests of the research sample. 3- There are no differences in the values of some other mechanical variables, particularly the corners of body joints and parts in the various performance stages. In the light of the conclusions, the researcher recommends the following: 1- The necessity of employing correct methodologies and training techniques by coaches in order to develop the standard level of the game. 2- Making use of the exercises that help promoting players' scoring accuracy from the corner and other playing positions in handball. 3- Using these exercises and other compound ones to develop the skills of the corner players and the right hand and left hand side players. 4- Allocating precise time intervals for training units in order to train on the skillful performance of scoring from the corner. 5- The necessity of paying attention to the mechanical variables, by clubs and teams coaches, to serve promoting the accuracy of corner players scoring. 6- Including other exercises for developing physical and skill characteristics of handball players with different playing positions. 7- Doing similar researches tackling the other playing positions in handball game. 8- Doing similar researches tackling various age-groups, including women handball teams.