Evidence for an autosomal recessive pattern of inheritance in Keratitis-ichthyosis-deafness (KID) syndrome: Exome sequencing reveals a novel homozygous GJB2 mutation

We present evidence that KID syndrome can be caused by a homozygous GJB2 mutation and demonstrate an autosomal recessive mode of inheritance for the first time at a molecular level.The spectrum of skin manifestations associated with gap junction gene mutations is still growing, particularly in the case of Cx26. Our findings add to the list of pathogenic variants associated with this condition, and contribute to an insight into the genotype-phenotype correlations of Cx26 mutations, thus elucidating the function of different regions of the protein and further add to the widely diverging associated phenotypes. (Source: Meta Gene)

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from #Head and Neck by Sfakianakis via simeraentaxei on Inoreader https://ift.tt/2CCI8qG