Journal article
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate
Clinical genetics, Vol.72(1), pp.19-22
07/01/2007
DOI: 10.1111/j.1399-0004.2007.00817.x
PMCID: PMC2570350
PMID: 17594395
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.
Details
- Title: Subtitle
- A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate
- Creators
- F E AbidiM G MianoJ C MurrayC E Schwartz
- Resource Type
- Journal article
- Publication Details
- Clinical genetics, Vol.72(1), pp.19-22
- DOI
- 10.1111/j.1399-0004.2007.00817.x
- PMID
- 17594395
- PMCID
- PMC2570350
- NLM abbreviation
- Clin Genet
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- Language
- English
- Date published
- 07/01/2007
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025420202771
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