Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?

Molecular Syndromology

C. Ardisia¹  A. Bartocci¹  I. Isidori¹  D. Rogaia¹  G. Guercini¹  A. Mencarelli¹  P. Prontera¹  E. Donti¹  V. Ottaviani¹ 

[1] aMedical Genetics Unit, University of Perugia, Perugia, Italy

关键词: Aicardi syndrome;    Autosomal inheritance;    Genomic disorder;    Sex-limited expression
;   

DOI  :  10.1159/000350040

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Aicardi syndrome (AIS), a rare neurodevelopmental disorder thought to be caused by an X-linked dominant mutation, is characterized by 3 main features: agenesis of corpus callosum, infantile spams and chorioretinal lacunae. A genome-wide study of a girl with AIS lead us to identify a 6q deletion;12q duplication, derived from a maternal 6q;12q translocation. The two intellectually impaired brothers of the proband showed the same genomic anomalies, but not the constellation of features characterizing the AIS. This could be either a coincidental observation of 2 rare conditions, but can also suggest an alternative hypothesis for the genetic etiology of AIS, indicating the existence of a subset of autosomal genes whose mutation could act in a sex-confined manner.

【 授权许可】

Unknown