Publications (4)39.55 Total impact
Clinical Genetics 12/2011; 80(6):591-4. · 3.13 Impact Factor
Article: The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.[show abstract] [hide abstract]
ABSTRACT: In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.Nature Genetics 03/2001; 27(2):159-66. · 35.53 Impact Factor
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ABSTRACT: The specific aim of the study was to assess the safety and efficacy of recombinant human erythropoietin (rHuEpo) in reducing the need for blood transfusions in preterm infants after the 15th day of life. Between 1 October 1994 and 1 October 1995, 107 preterm infants, gestational age < or = 34 weeks, were admitted to the Neonatal Intensive Care Unit and received rHuEpo subcutaneously, 900 U/kg week-1, 3 times weekly, supplemented with iron and vitamin E. Treatment was started at 8 days of life and lasted from a minimum of 6 weeks to a maximum of 3 months. A total of 116 preterm infants of the same gestational age, admitted to the Neonatal Intensive Care Unit from 1 January 1992 to 31 December 1992, served as controls. Entry criteria were gestational age < or = 34 weeks and no major congenital malformation. There were no differences in routine care between the two groups. Hematological measurements and transfusion requirements were followed during therapy. The infants were divided into two groups according to birth weight (< 1500 g and > or = 1500 g), and for each group the number of patients who received blood transfusions and when blood transfusions occurred, before or after the 15th day of life, was recorded. There was a statistically significant difference only for transfusions carried out after the 15th day of life (p < 0.002). No adverse effects attributable to rHuEpo during the treatment were noted. The results indicate that early rHuEpo treatment, in combination with iron supplements, is effective in reducing the need for blood transfusions in preterm infants after the 15th day of life.Pediatric Hematology and Oncology 15(5):415-20. · 0.89 Impact Factor
Article: Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1[show abstract] [hide abstract]
ABSTRACT: Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling neonatal tetanus, large face, broad nose, anteverted nares, camptodactyly, hyperthermia, and sudden death in most cases. We performed homozygosity mapping in five Sardinian and three Turkish families with Crisponi syndrome, using high-density single-nucleotide polymorphism arrays, and identified a critical region on chromosome 19p12-13.1. The most prominent candidate gene was CRLF1, recently found to be involved in the pathogenesis of cold-induced sweating syndrome type 1 (CISS1). CISS1 belongs to a group of conditions with overlapping phenotypes, also including cold-induced sweating syndrome type 2 and Stüve-Wiedemann syndrome. All these syndromes are caused by mutations of genes of the ciliary neurotrophic factor (CNTF)–receptor pathway. Here, we describe the identification of four different CRLF1 mutations in eight different Crisponi-affected families, including a missense mutation, a single-nucleotide insertion, and a nonsense and an insertion/deletion (indel) mutation, all segregating with the disease trait in the families. Comparison of the mutation spectra of Crisponi syndrome and CISS1 suggests that neither the type nor the location of the CRLF1 mutations points to a phenotype/genotype correlation that would account for the most severe phenotype in Crisponi syndrome. Other, still-unknown molecular factors may be responsible for the variable phenotypic expression of the CRLF1 mutations. We suggest that the syndromes can comprise a family of “CNTF-receptor–related disorders,” of which Crisponi syndrome would be the newest member and allelic to CISS1.Crisponi, L. and Crisponi, G. and Meloni, A. and Tolia, M.R. and Nürnberg, G. and Usala, G. and Uda, M. and Masala, M. and Höhne, W. and Becker, C. and Marongiu, M. and Chiappe, F. and Kleta, R. and Rauch, A. and Wollnik, B. and Strasser, F. and Jakobs, T.R.C. and Kurlemann, G. and Cao, A. and Nürnberg, P. and Rutsch, F. (2007) Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. The American Journal of Human Genetics, 80 (5). pp. 971-981. ISSN 00029297.