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Eur J Hum Genet ; 18(10): 1100-6, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20512159

RESUMEN

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.


Asunto(s)
Encéfalo/patología , Mutación , Proteínas de Unión al GTP rab3/genética , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Árabes , Encéfalo/anomalías , Encéfalo/fisiopatología , Catarata/congénito , Catarata/genética , Catarata/patología , Cromosomas Humanos Par 2/genética , Córnea/anomalías , Córnea/patología , Dinamarca , Efecto Fundador , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Guatemala , Humanos , Hipogonadismo/genética , Hipogonadismo/patología , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Imagen por Resonancia Magnética , Microcefalia/genética , Microcefalia/patología , Atrofia Óptica/genética , Atrofia Óptica/patología , Turquía
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