Antenatal Presentation of TMEM5 Gene-Associated Congenital Muscular Dystrophy Expanding the Phenotypic and Genotypic Spectrum

Abstract

We describe a clinicoautopsy phenotype of an occipital skull defect, ventriculomegaly, agenesis of corpus callosum and Dandy Walker Malformation (DWM) with a novel single base insertion in the TMEM5 gene, known to cause Walker Warburg syndrome. The clinical features of DWM extends the phenotype, while the pathogenic variant observed expands the mutational spectrum of the syndrome. This case highlights the importance of detailed postnatal phenotyping after a pregnancy is discontinued for an antenatallly detected malformation. Fetal samples must also be preserved for genetic tests to allow an etiological diagnosis in these situations. It is important for the fetal medicine specialists to remember to test for single gene disorders, after a normal chromosomal microarray especially in case of recurrence of a disease in a family.

Keywords

TMEM5 - Walker Warburg - Dandy Walker malformation - Novel mutation

Publication History

Received: 15 March 2019

Accepted: 12 April 2019

Article published online:
08 May 2023