Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females.

Rocio Arce-GonzalezOscar F Chacon-CamachoAlejandro Navas-PerezMaría C Gonzalez-GonzalezAlan Martinez-AguilarJuan Carlos Zenteno Ruiz

Published in: Ophthalmic genetics (2021)

Here, we report an additional XMC family due to a novel mutation in the CHRDL1 gene. Mild anterior segment anomalies were observed in two heterozygous carriers demonstrating for the first time a CHRDL1-linked phenotype in females. A detailed comparison of the clinical and genetic features of this pedigree with those observed in previously published XMC cases is also presented.

Keyphrases

genome wide
copy number
early onset
dna methylation
systematic review
gene expression
genome wide identification