2013
DOI: 10.1136/jmedgenet-2012-101431
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Mutations inTMEM231cause Meckel–Gruber syndrome

Abstract: BackgroundMeckel–Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality, occipital encephalocele, polydactyly, and polycystic kidney disease.PurposeTo report genetic analysis results in two families in which all known MKS diseases genes have been excluded.MethodsIn two consanguineous families with classical MKS in which autozygome-guided sequencing of previously reported MKS genes was negative, we performed exome sequencing followed by autozygome filtration.Resu… Show more

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Cited by 34 publications
(25 citation statements)
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“…The MKS complex derives its name from Meckel–Gruber syndrome (MKS), an extremely severe ciliopathy, leading to perinatal lethality and characterized by occipital encephalocele, polycystic kidneys, and polydactyly (Hildebrandt et al 2011). MKS can arise from mutations in MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2, TMEM231, KIF14, TCTN3, and TMEM107 (Thomas et al 2012; Shaheen et al 2013; Filges et al 2014; Valente et al 2014; Roberson et al 2015; Shaheen et al 2015). Of these, all except RPGRIP1L, NPHP3, and KIF14 encode identified components of the MKS complex (Chih et al 2011; Dowdle et al 2011; Garcia-Gonzalo et al 2011; Sang et al 2011; Roberson et al 2015; Lambacher et al 2016).…”
Section: Ciliary Gate Diseasesmentioning
confidence: 99%
“…The MKS complex derives its name from Meckel–Gruber syndrome (MKS), an extremely severe ciliopathy, leading to perinatal lethality and characterized by occipital encephalocele, polycystic kidneys, and polydactyly (Hildebrandt et al 2011). MKS can arise from mutations in MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2, TMEM231, KIF14, TCTN3, and TMEM107 (Thomas et al 2012; Shaheen et al 2013; Filges et al 2014; Valente et al 2014; Roberson et al 2015; Shaheen et al 2015). Of these, all except RPGRIP1L, NPHP3, and KIF14 encode identified components of the MKS complex (Chih et al 2011; Dowdle et al 2011; Garcia-Gonzalo et al 2011; Sang et al 2011; Roberson et al 2015; Lambacher et al 2016).…”
Section: Ciliary Gate Diseasesmentioning
confidence: 99%
“…Next-generation sequencing has markedly accelerated novel gene discovery by empowering both approaches mentioned above to fully harness their strengths and overcome their major limitations. For example, it is now possible to identify causal mutations in simplex ciliopathy cases [Shaheen et al, 2013a] and it is also possible to multiplex-sequence a large number of ciliome candidate genes in a large cohort of patients with various ciliopathies [Hopp et al, 2011]. In this study, we report the successful use of whole-exome sequencing of two simplex cases with a severe ciliopathy phenotype to identify truncating mutations in two genes that have not been previously linked to ciliopathy in humans despite their established role in various aspects of ciliary biology.…”
Section: Introductionmentioning
confidence: 99%
“…Gradation of the severity of the mutations from missense to null explains some of the variability in disease severity [Rozet and Gerard, ]. For example, bi‐allelic mutations in TMEM231 (MIM# 614949) with different degrees of deleteriousness cause JS [Srour et al., ], MGS [Shaheen et al., ], or orofaciodigital syndrome [Roberson et al., ].…”
mentioning
confidence: 99%