A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.

ABSTRACT:

Introduction

Joubert syndrome is a rare congenital disorder characterized by brain malformation, developmental delay with hypotonia, ocular motor apraxia, and breathing abnormalities. Joubert syndrome is a genetically highly heterogeneous ciliopathy disorder with 23 identified causative genes. The diagnosis is based on brain imaging showing the "molar tooth sign" with cerebellar vermis agenesis. We describe a consanguineous Moroccan family with three affected siblings (18-year-old boy, 13-year-old girl, and 10-year-old boy) showing typical signs of Joubert syndrome, and attempt to identify the underlying genetic defect in this family.

Methods

We performed genome-wide homozygosity mapping using a high-resolution array followed by targeted Sanger sequencing to identify the cau

SUBMITTER: Chafai-Elalaoui S 

PROVIDER: S-EPMC4635607 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature