AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

ABSTRACT:

Background

Deletions in the Xq22.3-Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME). The extrarenal biological and clinical significance of neighbouring genes to the Alport locus has been largely speculative. We sought to discover a genetic cause for two half-brothers presenting with nephrocalcinosis, early speech and language delay and midface hypoplasia with submucous cleft palate and bifid uvula.

Methods

Whole exome sequencing was undertaken on maternal half-siblings. In-house genomic analysis included extraction of all shared variants on the X chromosome in keepin

SUBMITTER: Andreoletti G 

PROVIDER: S-EPMC5502304 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature