Ontology highlight
ABSTRACT:
SUBMITTER: Rossetti LZ
PROVIDER: S-EPMC6557668 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Rossetti Linda Z LZ Glinton Kevin K Yuan Bo B Liu Pengfei P Pillai Nishitha N Mizerik Elizabeth E Magoulas Pilar P Rosenfeld Jill A JA Karaviti Lefkothea L Sutton Vernon R VR Lalani Seema R SR Scott Daryl A DA
American journal of medical genetics. Part A 20190508 7
The myelin regulatory factor gene (MYRF) encodes a transcription factor that is widely expressed. There is increasing evidence that heterozygous loss-of-function variants in MYRF can lead to abnormal development of the heart, genitourinary tract, diaphragm, and lungs. Here, we searched a clinical database containing the results of 12,000 exome sequencing studies. We identified three previously unreported males with putatively deleterious variants in MYRF: one with a point mutation predicted to a ...[more]