Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

European Journal of Human Genetics : EJHG
Michael FieldJozef Gecz

Abstract

Using a combination of linkage mapping and massively parallel sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene in a family with X-linked Joubert syndrome (JBTS10). The deletion results in an in-frame deletion of six amino acids. New features not noted in the two previously reported cases of X-linked Joubert syndrome include the presence of polycystic kidney disease, polymicrogyria and hydrocephalus. Our study further underlines the power of genetic mapping combined with massively parallel sequencing as a powerful tool for novel disease gene and mutation discovery.

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Citations

Nov 8, 2013·Journal of Human Genetics·Bahareh RabbaniNejat Mahdieh
Dec 4, 2013·Nature Reviews. Neurology·Enza Maria ValenteJoseph G Gleeson
Jun 3, 2014·Orphanet Journal of Rare Diseases·Ennio Del GiudiceUNKNOWN Oral-Facial-Digital Type I (OFD1) Collaborative Group
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Mar 26, 2013·European Journal of Medical Genetics·Véronique Darmency-StamboulChristel Thauvin-Robinet
Sep 22, 2016·Case Reports in Nephrology·Sheena SharmaMadhura Pradhan
Apr 4, 2017·American Journal of Medical Genetics. Part a·Arjan BoumanMerel van Maarle
Mar 16, 2017·Journal of Medical Genetics·Ange-Line BruelChristel Thauvin-Robinet
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Mar 6, 2021·Cell & Bioscience·Qi WuSi Sun
Sep 4, 2012·American Journal of Human Genetics·Sima Kheradmand KiaGrazia M S Mancini

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