De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

ABSTRACT:

Background

Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical investigation. The recent advent and use of genomic medicine has resulted in a paradigm shift in the clinical molecular genetics of rare diseases and has provided insight into the causes of numerous rare genetic conditions. In particular, whole exome and genome sequencing of families has been particularly useful in discovering de novo germline mutations as the cause of both rare diseases and complex disorders.

Case presentation

We present a six year old, nonverbal African American female with microcephaly, autism, global developmental

SUBMITTER: Dinwiddie DL 

PROVIDER: S-EPMC3851682 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature