LETTER TO JMG 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
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 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
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B FLS is a rare X linked recessive disorder characterised by moderate to severe mental retardation, obesity with gynaecomastia, hypogonadism, and large prominent ears. However, a clear diagnosis is often difficult. BFLS may be confused with other obesity related mental retardation syndromes as there can be intrafamilial and interfamilial phenotypic variability and women may also be affected, po...
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 کاملLetter to Jmg
X linked mental retardation (XLMR) represents around 5% of all MR, with a prevalence of 1 in 600 males. 2 Fifteen to twenty percent of the total XLMR is the result of the fragile X syndrome. Non-fragile X mental retardation was subdivided into syndromal and non-syndromal conditions by Neri et al in 1991. The syndromal XLMR entities (MRXS) are those in which there is a specific pattern of physic...
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...
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