Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

1. J Med Genet. 2005 Oct;42(10):780-6.

Mutations in PHF8 are associated with X linked mental retardation and cleft
lip/cleft palate.

Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse
J, Van Esch H, Lacombe D, Goizet C, Phan-Dinh Tuy F, van Bokhoven H, Fryns JP,
Chelly J, Ropers HH, Moraine C, Hamel BC, Briault S.

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.

DOI: 10.1136/jmg.2004.029439
PMCID: PMC1735927
PMID: 16199551 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus