| New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. | |
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MedLine Citation:
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PMID: 20512159 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article Date: 2010-05-26 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 18 ISSN: 1476-5438 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-23 Completed Date: 2011-02-07 Revised Date: 2012-04-27 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 1100-6 Citation Subset: IM |
Affiliation:
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Institute for Human Genetics, University Clinic Freiburg, Freiburg, Germany. deborah.morris-rosendahl@uniklinik-freiburg.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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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:
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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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