Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).

ABSTRACT:

Background

Koolen-de Vries (KdV) syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and developmental delay and can present with abnormal hair texture. Menkes disease is an X-linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency.

Method

We identified an infant male who presented with prematurity, hypotonia, and dysmorphic features for whom a family history of clinical Menkes disease was revealed after discussion with the clinical genetics team.

Results

Although initial first-tier genetic testing identified Kdv syndrome (17q21.31 syndrome), the family history led the team to consider a second diagnostic possibility, and testing of ATP7A revealed a pathogenic variant (c.601C>

SUBMITTER: Woodfin T 

PROVIDER: S-EPMC6687649 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature