Phenotypic variability in Micro syndrome: Report of new cases

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Authors

Abstract

The authors describe seven Egyptian patients (5 males and two females) with microcephaly, mild microphthalmia, microcornea, congenital cataracts and hypogenitalism (only in males). These features (after excluding possible non-genetic causes) are consistent with the diagnosis of Micro syndrome. Clinical, neurological, ophthalmologic examinations and brain imaging and electrophysiological studies were performed in all patients. Three cases had characteristic facial features consistent with those originally described in the Micro syndrome whilst the rest of the cases had clearly different facies to that of the original patients of Micro syndrome but similar to those described in Martsolf syndrome. The patients had a variable degree of brain atrophy but hypogenesis of the corpus callosum was evident only in five patients. Abnormal gyral pattern, small cerebellum, vermian hypoplasia and delayed myelination were additional imaging findings in 3 cases. All patients had delayed visual evoked potential but normal electroretinogram. The frequently-reported parental consanguinity emphasizes the major role of the single gene inheritance. Mutation analysis for two patients showed homozygous nonsense mutation of RAB3GAP1 in one while the other showed no evidence of linkage to either RAB3GAP1 or RAB2GAP2. Based on these cases and review of the literature, PAB3GAP genes dysregulation may result in a spectrum of phenotypes that range from Micro syndrome to Martsolf syndrome.

Details

Original languageEnglish
Pages (from-to)423-435
Number of pages13
JournalGenetic counseling (Geneva, Switzerland)
Volume18
Issue number4
Publication statusPublished - 1 Jan 2007

Keywords

  • microphthalmia, microcephaly, Micro syndrome, congenital cataract, hypogenesis of corpus callosum, hypogenitalism