Article
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
American journal of medical genetics. Part A - 1 Feb 2016
Al-Maawali Almundher, Barry Brenda J, Rajab Anna, El-Quessny Malak, Seman Ann, Coury Stephanie Newton, Barkovich A James, Yang Edward, Walsh Christopher A, Mochida Ganeshwaran H, Stoler Joan M
Abstract excerpt
Exome sequencing identified homozygous loss-of-function variants in DIAPH1 (c.2769delT; p.F923fs and c.3145C>T; p.R1049X) in four affected individuals from two unrelated consanguineous families. The affected individuals in our report were diagnosed with postnatal microcephaly, early-onset epilepsy, severe vision impairment, and pulmonary symptoms including bronchiectasis and recurrent respiratory infections. A...
Topics
- Adaptor Proteins, Signal Transducing
- Adult
- Age of Onset
- Animals
- Blindness
- Exome
- Female
- Formins
- Humans
- Infant
- Infant, Newborn