RT Journal Article
SR Electronic
T1 Mutations in <em>PHF8</em> are associated with X linked mental retardation and cleft lip/cleft palate
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 780
OP 786
DO 10.1136/jmg.2004.029439
VO 42
IS 10
A1 F Laumonnier
A1 S Holbert
A1 N Ronce
A1 F Faravelli
A1 S Lenzner
A1 C E Schwartz
A1 J Lespinasse
A1 H Van Esch
A1 D Lacombe
A1 C Goizet
A1 F Phan-Dinh Tuy
A1 H van Bokhoven
A1 J-P Fryns
A1 J Chelly
A1 H-H Ropers
A1 C Moraine
A1 B C J Hamel
A1 S Briault
YR 2005
UL http://jmg.bmj.com/content/42/10/780.abstract
AB 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 functional domains, a PHD finger and a JmjC (Jumonji-like C terminus) domain, implicating it in transcriptional regulation and chromatin remodelling. The association of XLMR and cleft lip/palate in these patients with mutations in PHF8 suggests an important function of PHF8 in midline formation and in the development of cognitive abilities, and links this gene to XLMR associated with cleft lip/palate. Further studies will explore the specific mechanisms whereby PHF8 alterations lead to mental retardation and midline defects.