Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.

ABSTRACT:

Background

Loss of function variants and whole gene deletions of ZNF462 has been associated with a novel phenotype of developmental delay/intellectual disability and distinctive facial features. Over two dozen cases have been reported to date and the condition is now known as Weiss-Kruszka syndrome (OMIM# 618619). There are several older reports in the literature and DECIPER detailing individuals with interstitial deletions of 9q31 involving the ZNF462 gene. Many of the characteristic facial features described in these microdeletion cases are similar to those who have been diagnosed with Weiss-Kruszka syndrome.

Methods

We describe three additional patients with overlapping 9q31 deletions and compare the phenotypes of the microdeletion cases reported in the literature to Weis

SUBMITTER: Brady L 

PROVIDER: S-EPMC10009906 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature