Novel < em > CHRDL1 < /em > mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females

CONCLUSIONS: 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.PMID:34844512 | DOI:10.1080/13816810.2021.2002917

Source: Ophthalmic Genetics - November 30, 2021 Category: Opthalmology Authors: Rocio Arce-Gonzalez Oscar F Chacon-Camacho Alejandro Navas-Perez Mar ía C Gonzalez-Gonzalez Alan Martinez-Aguilar Juan Carlos Zenteno Source Type: research