Mutations in TMEM231 cause Meckel–Gruber syndrome

Meckel Gruber syndrome is a multiple congenital malformation syndrome that represents the severe end of the ciliopathy phenotypic spectrum. It is caused by recessive mutations in a number of genes.  In this study, we have identified two consanguineous families with Meckel Gruber syndrome and uncovered a novel recessive mutation in TMEM231 in each of them.  TMEM231 has been implicated recently in the pathogenesis of Joubert Syndrome. Our findings expand the understanding of the overlap in the molecular pathogenesis between Meckel Gruber and Joubert syndromes. They will also increase the percentage of families with Meckel Gruber Syndrome who can learn the cause of their illness at the gene level. (By Dr. Fowzan S Alkuraya, http://jmg.bmj.com/content/early/2013/01/23/jmedgenet-2012-101431 )

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