Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
نویسندگان
چکیده
T Kleefstra, H G Yntema, A R Oudakker, M J G Banning, V M Kalscheuer, J Chelly, C Moraine, H-H Ropers, J-P Fryns, I M Janssen, E A Sistermans, W N Nillesen, L B A de Vries, B C J Hamel, H van Bokhoven . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
LETTER TO JMG Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
T Kleefstra, H G Yntema, A R Oudakker, M J G Banning, V M Kalscheuer, J Chelly, C Moraine, H-H Ropers, J-P Fryns, I M Janssen, E A Sistermans, W N Nillesen, L B A de Vries, B C J Hamel, H van Bokhoven . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.
Mutations in the XNP/ATR-X gene, located in Xq13.3, are associated with several X linked mental retardation syndromes, the best known being alpha thalassaemia with mental retardation (ATR-X). The XNP/ATR-X protein belongs to the family of SWI/SNF DNA helicases and contains three C2-C2 type zinc fingers of unknown function. Previous studies have shown that 65% of mutations of XNP have been found...
متن کاملRecurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Aus...
متن کاملLarge-scale medical resequencing for X-linked mental retardation.
Severe intellectual disability (ID), commonly referred to as mental retardation (MR), comprises a large collection of clinical conditions whose associated phenotypes include substantially below-average intelligence test scores and limited abilities in socially adaptive behaviors, such as communication, self-care, social interaction, and school functioning. ID/MR affects 1%–3% of the worldwide p...
متن کاملMutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/palate (MIM 300263). Expression studies showed that this gene is ubiquitously transcribed, with strong expression of the mouse orthologue Phf8 in embryonic and adult brain structures. The coded PHF8 protein harbours two ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 41 5 شماره
صفحات -
تاریخ انتشار 2004