Article
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
American journal of human genetics - 9 Mar 2012
Hoyer Juliane, Ekici Arif B, Endele Sabine, Popp Bernt, Zweier Christiane, Wiesener Antje, Wohlleber Eva, Dufke Andreas, Rossier Eva, Petsch Corinna, Zweier Markus, Göhring Ina, Zink Alexander M, Rappold Gudrun, Schröck Evelin, Wieczorek Dagmar, Riess Olaf, Engels Hartmut, Rauch Anita, Reis André
Abstract excerpt
Intellectual disability (ID) is a clinically and genetically heterogeneous common condition that remains etiologically unresolved in the majority of cases. Although several hundred diseased genes have been identified in X-linked, autosomal-recessive, or syndromic types of ID, the establishment of an etiological basis remains a difficult task in unspecific, sporadic cases. Just recently, de novo mutations in...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromatin
- Chromatin Assembly and Disassembly
- Chromosomal Proteins, Non-Histone
- Cohort Studies
- DNA Mutational Analysis