PT - JOURNAL ARTICLE AU - F Laumonnier AU - S Holbert AU - N Ronce AU - F Faravelli AU - S Lenzner AU - C E Schwartz AU - J Lespinasse AU - H Van Esch AU - D Lacombe AU - C Goizet AU - F Phan-Dinh Tuy AU - H van Bokhoven AU - J-P Fryns AU - J Chelly AU - H-H Ropers AU - C Moraine AU - B C J Hamel AU - S Briault TI - Mutations in <em>PHF8</em> are associated with X linked mental retardation and cleft lip/cleft palate AID - 10.1136/jmg.2004.029439 DP - 2005 Oct 01 TA - Journal of Medical Genetics PG - 780--786 VI - 42 IP - 10 4099 - http://jmg.bmj.com/content/42/10/780.short 4100 - http://jmg.bmj.com/content/42/10/780.full SO - J Med Genet2005 Oct 01; 42 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.