|
Title
|
|
|
|
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability
| |
|
Author
|
|
|
|
| |
|
Abstract
|
|
|
|
| Intellectual disability (ID) affects approximately 12% of the general population and is characterized by impaired cognitive abilities. ID is both clinically aswell as genetically heterogeneous, up to 2000 genes are estimated to be involved in the emergence of the diseasewith various clinical presentations. For many genes, only a fewpatients have been reported and causality of some genes has been questioned upon the discovery of apparent loss-offunction mutations in healthy controls. Description of additional patients strengthens the evidence for the involvement of a gene in the disease and can clarify the clinical phenotype associated with mutations in a particular gene. Here,we present two large four-generation familieswith a total of 11males affected with ID caused bymutations in ZNF711, thereby expanding the total number of families with ID and a ZNF711 mutation to four. Patients with mutations in ZNF711 all presentwith mild to moderate ID and poor speech accompanied by additional features in some patients, including autistic features andmild facial dysmorphisms, suggesting that ZNF711mutations cause non-syndromic ID. |
| |
|
Language
|
|
|
|
English
| |
|
Source (journal)
|
|
|
|
Gene. - Amsterdam
| |
|
Publication
|
|
|
|
Amsterdam
:
2017
| |
|
ISSN
|
|
|
|
0378-1119
| |
|
DOI
|
|
|
|
10.1016/J.GENE.2016.12.013
| |
|
Volume/pages
|
|
|
|
605
(2017)
, p. 92-98
| |
|
ISI
|
|
|
|
000393261000011
| |
|
Full text (Publisher's DOI)
|
|
|
|
| |
|
Full text (open access)
|
|
|
|
| |
|
Full text (publisher's version - intranet only)
|
|
|
|
| |
|