New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect

Maha S. Zaki, Ghada M.H.Abdel Salam, Sahar N. Saleem, William B. Dobyns, Mahmoud Y. Issa, Shifteh Sattar, Joseph G. Gleeson

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance.

Original languageEnglish (US)
Pages (from-to)3035-3041
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number12
DOIs
StatePublished - Dec 2011
Externally publishedYes

Keywords

  • Cerebellar hypoplasia
  • Heart block
  • Insulin-dependent diabetes
  • Mental retardation
  • Microcephaly

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