title: A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.
abstract: Recently, two truncating mutations in the PHF8 (plant homeodomain finger protein 8) gene have been found to cause X-linked mental retardation associated with cleft lip/cleft palate (CL/P). One of the truncating mutations was found in the original family with Siderius-Hamel CL/P syndrome where only two of the three affected individuals had mental retardation (MR) with CL/P and one individual had mild MR. The second mutation was present in a family with four affected men, three of whom had MR and CL/P, while the fourth individual had mild MR without clefting. Here, we report a novel nonsense mutation (p.K177X) in a male patient who has MR associated with CL/P. The mutation results in a truncated PHF8 protein lacking the Jumonji-like C terminus domain and five nuclear localization signals. Our finding further supports the hypothesis that the PHF8 protein may play an important role in cognitive function and midline formation.
authors.affiliation: Center for Molecular Studies, J C Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA. fatimaabidi@ggc.org
authors.forename: F  E
authors.initials: F
authors.lastname: Abidi
authors.forename: M  G
authors.initials: M
authors.lastname: Miano
authors.forename: J  C
authors.initials: J
authors.lastname: Murray
authors.forename: C  E
authors.initials: C
authors.lastname: Schwartz
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002971:Cleft Lip / Q000150:complications* / Q000235:genetics*; D002972:Cleft Palate / Q000150:complications* / Q000235:genetics*; D018389:Codon, Nonsense; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D056466:Histone Demethylases; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000150:complications* / Q000235:genetics*; D017354:Point Mutation; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D017931:DNA Primers; D014157:Transcription Factors; D056466:Histone Demethylases; C511934:PHF8 protein, human