Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus. (5th July 2012)

• Record Type: Journal Article
• Authors: Holman, SK; Morgan, T; Baujat, G; Cormier‐Daire, V; Cho, T‐J; Lees, M; Samanich, J; Tapon, D; Hove, HD; Hing, A; Hennekam, R; Robertson, SP
• Is Part Of: Clinical genetics. Volume 83:Number 3(2013:Mar.)
• Page Start: 251
• Page End: 256
• Publication Date: 2012-07-05
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/j.1399-0004.2012.01905.x
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Osteopathia striata congenita with cranial sclerosis (OSCS) is a skeletal dysplasia caused by germline deletions of or truncating point mutations in the X‐linked gene <italic>WTX</italic> (<italic>FAM123B</italic>, <italic>AMER1</italic>). Females present with longitudinal striations of sclerotic bone along the long axis of long bones and cranial sclerosis, with a high prevalence of cleft palate and hearing loss. Intellectual disability or neurodevelopmental delay is not observed in females with point mutations in <italic>WTX</italic> leading to OSCS. One female has been described with a deletion spanning multiple neighbouring genes suggesting that deletion of some neighbouring loci may result in abnormal neurodevelopment. In this cohort of 13 females with OSCS resulting from deletions of <italic>WTX</italic>, a relationship is observed where deletion of <italic>ARHGEF9</italic> and/or <italic>MTMR8</italic> in conjunction with <italic>WTX</italic> results in an additional neurodevelopmental phenotype whereas deletion of <italic>ASB12</italic> along with <italic>WTX</italic> is associated with a good neurodevelopmental prognosis.</p> </abstract>