CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.

ABSTRACT:

Background

Homozygous mutations and deletions of the microcephalin gene (MCPH1; OMIM *607117) have been identified as a cause of autosomal recessive primary microcephaly and intellectual disability (MIM #251200). Previous studies in families of Asian descent suggest that the severity of the phenotype may vary based on the extent of the genomic alteration. We report chromosome microarray (CMA) findings and the first described family study of a patient with primary microcephaly in a consanguineous Hispanic family.

Case presentation

The proband, a boy born at full-term to consanguineous parents from Mexico, presented at 35 months of age with microcephaly, abnormal brain MRI findings, underdeveloped right lung, almond-shaped eyes, epicanthal folds, bilateral esotropia, lo

SUBMITTER: Hemmat M 

PROVIDER: S-EPMC5584047 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature