Confirmation that RIPK4 mutations cause not only Bartsocas ‐Papas syndrome but also CHAND syndrome

We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas‐Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas‐Papas syndrome and discuss genotype/phenotype correlations.

Source: American Journal of Medical Genetics Part A - September 21, 2017 Category: Genetics & Stem Cells Authors: Tiffany Busa, Mohammed Jeraiby, Alix Cl émenson, Sylvie Manouvrier, Viviana Granados, Nicole Philip, Renaud Touraine Tags: CLINICAL REPORT Source Type: research