Document Detail


New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
MedLine Citation:
PMID:  20512159     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. We have found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds. A thorough clinical investigation of the patients has allowed the delineation of symptoms that are consistently present in the patients and may aid the differential diagnosis of Micro Syndrome for patients in the future. All patients had postnatal microcephaly, micropthalmia, microcornia, bilateral congenital cataracts, short palpebral fissures, optic atrophy, severe mental retardation, and congenital hypotonia with subsequent spasticity. Only one patient had microcephaly at birth, highlighting the fact that congenital microcephaly is not a consistent feature of Micro syndrome. Analysis of the brain magnetic resonance imagings (MRIs) revealed a consistent pattern of polymicrogyria in the frontal and parietal lobes, wide sylvian fissures, a thin hypoplastic corpus callosum, and increased subdural spaces. All patients were homozygous for the mutations detected and all mutations were predicted to result in a truncated RAB3GAP1 protein. The analysis of nine polymorphic markers flanking the RAB3GAP1 gene showed that the mutation c.1410C>A (p.Tyr470X), for which a Danish patient was homozygous, occurred on a haplotype that is shared by the unrelated heterozygous parents of the patient. This suggests a possible founder effect for this mutation in the Danish population.
Authors:
Deborah J Morris-Rosendahl; Reeval Segel; A Peter Born; Christoph Conrad; Bart Loeys; Susan Sklower Brooks; Laura Müller; Christine Zeschnigk; Christina Botti; Ron Rabinowitz; Gökhan Uyanik; Marc-Antoine Crocq; Uwe Kraus; Ingrid Degen; Fran Faes
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Publication Detail:
Type:  Journal Article     Date:  2010-05-26
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  18     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-23     Completed Date:  2011-02-07     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1100-6     Citation Subset:  IM    
Affiliation:
Institute for Human Genetics, University Clinic Freiburg, Freiburg, Germany. deborah.morris-rosendahl@uniklinik-freiburg.de
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology
Arabs
Brain / abnormalities,  pathology*,  physiopathology
Cataract / congenital,  genetics,  pathology
Chromosomes, Human, Pair 2 / genetics
Cornea / abnormalities,  pathology
Denmark
Founder Effect
Genetic Markers
Genetic Predisposition to Disease
Guatemala
Humans
Hypogonadism / genetics,  pathology
Intellectual Disability / genetics,  pathology
Magnetic Resonance Imaging
Microcephaly / genetics,  pathology
Mutation*
Optic Atrophy / genetics,  pathology
Turkey
rab3 GTP-Binding Proteins / genetics*
Chemical
Reg. No./Substance:
0/Genetic Markers; EC 3.6.5.2/rab3 GTP-Binding Proteins
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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