Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.

ABSTRACT:

Purpose

The pace of Mendelian gene discovery is slowed by the "n-of-1 problem"-the difficulty of establishing the causality of a putatively pathogenic variant in a single person or family. Identification of an unrelated person with an overlapping phenotype and suspected pathogenic variant in the same gene can overcome this barrier, but it is often impeded by lack of a convenient or widely available way to share data on candidate variants/genes among families, clinicians, and researchers.

Methods

Social networking among families, clinicians, and researchers was used to identify three children with variants of unknown significance in KDM1A and similar phenotypes.

Results

De novo variants in KDM1A underlie a new syndrome characterized by developmental delay and distincti

SUBMITTER: Chong JX 

PROVIDER: S-EPMC4902791 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature