Meckel Syndrome, Type 11

Alternative Names

  • MKS11
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

615397

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16q23.1

Description

Meckel Syndrome, type 11 is an extremely rare and fatal subset of MKS.  Similar to other MKS subtypes, the ciliopathy is characterized by the triad of occipital encephalocele, polydactyly of the hands and feet and polycystic kidneys.  Oligohydramnios may also be seen during pregnancy.  The prognosis of the disorder remains poor, with most cases resulting in in-utero or perinatal death.  MKS does not have a gender bias and is found to affect between 1/13,250 to 1/140,000 live births.  The disorder has been seen to be more prevalent in Finnish, Belgian, Gujarati Indian and Kuwaiti Bedouin populations.  However, the subtype MKS11 has so far only been reported in a handful of families, all of Arab origin.

MKS11 follows an autosomal recessive pattern of inheritance and is caused by mutations in the TMEM231 gene.  This gene encodes a ciliary protein involved in protein localization, cilium assembly and Sonic hedgehog signaling.  The protein is also predicted to play a role in in-utero embryonic development.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615397.1Saudi ArabiaYesYes Encephalocele; Polydactyly; Polycystic k...NM_001077418.3:c.664G>AHomozygousAutosomal, RecessiveShaheen et al. 2013b Index from 'family 1...
615398.2Saudi ArabiaYes Polydactyly; Polycystic kidney dysplasia...NM_001077418.3:c.815A>CHomozygousAutosomal, RecessiveShaheen et al. 2013; Shaheen et al. 2013b Case 'MKS_F18' in th...
615399.3.1Saudi ArabiaYesYes Encephalocele; Polycystic kidney dysplas...NM_001077418.3:c.664G>AHomozygousAutosomal, RecessiveAl-Hamed et al. 2016 Patient from 'family...
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