Jayesh J Sheth

Jayesh J Sheth
Institute of Human Genetics · Biochemical and Molecular Genetics

M.Sc,PhD,FICMCH

About

153
Publications
49,733
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
1,614
Citations
Citations since 2016
45 Research Items
983 Citations
2016201720182019202020212022050100150
2016201720182019202020212022050100150
2016201720182019202020212022050100150
2016201720182019202020212022050100150
Introduction
Pioneer fo genetic services in Gujarat and established for the first time in India that Gaucher disease is the most common storage disorder with L444P as the common mutation. Also shown that E462 V is the founder mutation for Tay Sachs disease in Indian patients . Demonstrated that Vitamin D deficiency is seen in 90% with 54% patients with dyslipidemia and 72% with central obesity in Urban Indian population.Currently working on National task force study on LSDs in India.
Additional affiliations
January 2001 - present
Institute of Human Genetics
Position
  • CEO

Publications

Publications (153)
Article
Full-text available
Background Hemophagocytic Lymphohistiocytosis (HLH) is a rare, complex, life-threatening hyper-inflammatory condition due to over activation of lymphocytes mediated secretory cytokines in the body. It occurs as a primary HLH due to genetic defect that mostly occurs in the childhood and associated with early neonatal death. Secondary HLH is triggere...
Article
Tay–Sachs disease (TSD) (OMIM) is a neurodegenerative lysosomal storage disorder caused due to mutations in the HEXA gene. To date, nearly 190 mutations have been reported in HEXA gene. Here, we have characterized 34 enzymatically confirmed TSD families to investigate the presence of novel as well as known variants in HEXA gene. Overall study detec...
Article
Full-text available
Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the comple...
Article
Mucolipidosis-IIIγ (ML-IIIγ) is a recessively inherited slowly progressive skeletal dysplasia caused by mutations in GNPTG. We report the genetic and clinical findings in the largest cohort with ML-IIIγ so far: 18 affected individuals from 12 families including 12 patients from India, five from Turkey, and one from the USA. With consanguinity confi...
Article
Full-text available
Background: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental a...
Article
Full-text available
Background: Tay-Sachs disease (TSD) is a sphingolipid storage disorder caused by mutations in the HEXA gene. To date, nearly 170 mutations of HEXA have been described, including only one 7.6 kb large deletion. Methods: Multiplex Ligation-dependent Probe Amplification (MLPA) study was carried out in 5 unrelated patients for copy number changes wh...
Article
Full-text available
Background: Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. A beta-Glucosidase (GBA) gene defect results in glucocerebrosidase enzyme deficiency. Though the disease is mainly diagnosed in childhood, the adult manifestation is often mi...
Article
Full-text available
Background Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. Till date, nearly 76 mutations in PPT1 and approximately 140 mutations, including large deletion/duplications, i...
Article
Full-text available
Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid glucocerebroside inside the cells’ lysosomes. To date, nearly 460 mutations have been described in the GBA1 ge...
Article
Full-text available
Background: Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a 'de novo' event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alterations and mosaicism of cells with r(6) and/or monosomy 6 due to loss of r(6). Case presentation: An 11-year-...
Article
Full-text available
Background: Small supernumerary marker chromosomes (sSMC) are rare cytogenetic findings in general, but especially in Turner syndrome so called sSMCT in a karyotype 46,X,+mar are even more scarce. According to the literature, sSMCT are derived from one of the Y-chromosomes in ~70% of the cases. Thus, to identify the presence of Y-chromosomal materi...
Article
Background: Harlequin ichthyosis (HI) is a severe genetic disorder caused by the mutation in the ABCA12 gene. Infants born with this condition have markedly thickened, hard stratum corneum skin all over the body. Methods: A female child born with a thick white plate of skin with deep cracks all over the body was investigated for genes associated...
Article
Full-text available
Objective: Mowat-Wilson syndrome (MWS) is a rare congenital disorder with specific facial features and multiple congenital anomalies including Hirschsprung disease (HD). In absence of Hirschsprung disease affected individuals may not be recognized until childhood or adulthood. Case Report: A six-year-old girl presented with multiple congenital anom...
Article
Full-text available
Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in In...
Article
Full-text available
Background Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. Case presentati...
Article
Full-text available
Background Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s, level of mosaicism and ring instability resulting in a va...
Article
Full-text available
GM2 Gangliosidoses are a group of autosomal recessive genetic disorders caused by intra-lysosomal deposition of ganglioside GM2 mainly in the neuronal cells.GM2-Activator protein deficiency is an extremely rare type of GM2 gangliosidosis (AB variant) caused by the mutation of GM2A.We report a case of a female child who presented with clinical featu...
Article
Newer sequencing technologies decipher molecular variations and increase the knowledge of pathogenesis of complex diseases like intellectual disability (ID), affecting 2-3% of the population. We report a novel family with a missense mutation in LINS1 as a cause for non-syndromic ID. Clinical exome sequencing for ID related genes carried out for a m...
Article
Full-text available
Background GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cases have been reported from different population except India. Case presentation Present case is a one year old male born to 3r...
Article
Objective: Imaging criteria for measuring the response of desmoid fibromatosis to systemic therapy are not well established. We evaluated a series of patients with desmoids who underwent systemic therapy to document magnetic resonance imaging (MRI) features associated with a positive clinical response. Materials and methods: This Institutional R...
Article
Full-text available
Objective: To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes. Design: Review of medical records. Setting: Specialized Genetic Center. Participants: 432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for diagnostic workup of various Lysosomal sto...
Article
Sandhoff disease (SD) is an autosomal recessive neurodegenerative lysosomal storage disorder caused by mutations in HEXB gene. Molecular pathology is unknown in Indian patients with SD. The present study is aimed to determine mutations spectrum and molecular pathology leading to SD in 22 unrelated patients confirmed by the deficiency of β-hexosamin...
Article
Full-text available
Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity. A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique. Chromosomal analysis for the couple was performed. A balanced tra...
Article
Full-text available
Limdi et al.1 recently demonstrated that CYP2C9/VKORC1 genotyping shows limited prediction of warfarin dose requirement in African-Americans, in line with previous suggestions that applying algorithms largely derived from European populations to African-Americans may result in poorer accuracy in this group2. Based on our recent findings on an India...
Article
Full-text available
Background Dyslipidemia and obesity are the most common complex metabolic disorders taking the highest toll of health resources globally by its increasing incidences. This consequently leads to type 2 diabetes mellitus (T2DM) and cardiovascular disorders (CVDs) with variable reports about the role of metabolic factors on glycemic control. The curre...
Article
We compliment Steven and Taylor [1] on their demonstration that extreme calorie restriction intervention leads to the achievement of non-diabetic fasting plasma glucose levels in more than four-fifths of patients with short-duration (<4 years) and half of those with long-duration (>8 years) diabetes, in addition to producing clinically significant...
Article
Full-text available
Background Children born with congenital anomalies present a very high rate of perinatal death and neonatal mortality. Cytogenetic analysis is a convincing investigation along with clinical suspicion and biochemical screening tests. The current study was designed to characterize the prevalence and types of chromosomal abnormalities in high risk pre...
Article
Full-text available
Triplet repeat expansion disorders (TRED) are one of the commonest causes of hereditary neuropathy with thirty different heredity diseases due to increased number of trinucleotide repeats above certain threshold in the genomic DNA. The degree of disease aggressiveness depends on the number of repeats and resultant alteration in the expression of se...
Article
Full-text available
Triplet repeat expansion disorders (TRED) are one of the commonest causes of hereditary neuropathy with thirty different heredity diseases due to increased number of trinucleotide repeats above certain threshold in the genomic DNA. The degree of disease aggressiveness depends on the number of repeats and resultant alteration in the expression of se...
Article
Triplet repeat expansion disorders (TRED) are one of the commonest causes of hereditary neuropathy with thirty different heredity diseases due to increased number of trinucleotide repeats above certain threshold in the genomic DNA. The degree of disease aggressiveness depends on the number of repeats and resultant alteration in the expression of se...
Article
Full-text available
Background Vitamin D deficiency reportedly is associated with type 2 diabetes (T2DM). We aim to examine whether 25-hydroxyvitamin D (25OHD) has clinically significant influence on hemoglobin glycation (HbA1c) and insulin resistance (HOMA-IR) in T2DM subjects. Methods Present study was carried out in 912 subjects (429 T2DM cases and 483 non-diabeti...
Article
Full-text available
‘Pure’ interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated to autism. Genetic analysis by aCGH exhibited a 627...
Article
Full-text available
Background: Dyslipidemia and obesity are the most common complex metabolic disorders taking the highest toll of health resources globally by its increasing incidences. This consequently leads to type 2 diabetes mellitus (T2DM) and cardiovascular disorders (CVDs) with variable reports about the role of metabolic factors on glycemic control. The curr...
Article
Full-text available
Tay–Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene. Very little is known about the molecular pathology of TSD in Indian children except for a few mutations identified by us. The present study is aimed to determine add...
Article
Full-text available
Terminal 11q deletion, known as Jacobsen syndrome (JBS), is a rare genetic disorder associated with numerous dysmorphic features. We studied two cases with multiple congenital anomalies that were cytogenetically detected with deletions on 11q encompassing JBS region: 46,XX,der(11)del(11)(q24). Array comparative genomic hybridization (aCGH) analysis...