Back to Search
Start Over
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors
- Publication Year :
- 2011
-
Abstract
- We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three affected children. Linkage analysis revealed a region on chromosome 18 with a significant LOD score of 4.3. In this area, two homozygous nonconserved missense mutations in immediate early response 3 interacting protein 1 (IER3IP1) were found in patients from both families. IER3IP1 is highly expressed in the fetal brain cortex and fetal pancreas and is thought to be involved in endoplasmic reticulum stress response. We reported one of these families previously in a paper on Wolcott-Rallison syndrome (WRS). WRS is
Details
- Database :
- OAIster
- Notes :
- American Journal of Human Genetics vol. 89 no. 2, pp. 265-276, English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.ocn957102840
- Document Type :
- Electronic Resource
- Full Text :
- https://doi.org/10.1016.j.ajhg.2011.07.006