A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.

ABSTRACT:

Background

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head circumference at birth with no remarkable anomalies of brain architecture and variable degrees of intellectual impairment. Clinical and genetic heterogeneity in genetic disorders represent a major diagnostic challenge.

Case presentation

Two patients, 11 and 9 years old, born from consanguineous parents, were referred to the department of medical genetics at the National Institute of Health in Rabat. The diagnosis of MCPH was made, based on reduced head circumference without brain architecture abnormalities. The two patients were subject to the whole-exome sequencing, which allowed to diagnose a novel homozygou

SUBMITTER: Cherkaoui Jaouad I 

PROVIDER: S-EPMC6052603 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature