Association Between Missense Mutations in the XXXX Gene and @entity6391 .

@entity1 @entity2000 @entity72008 @entity535 @entity42970 @entity6391 @entity72010 @entity72009 @entity72007
IMPORTANCE: A large number of genes can cause inherited @entity2000 when mutated. It is important to identify the cause of disease for a better disease prognosis and a possible gene-specific therapeutic intervention. OBJECTIVE: To identify the cause of disease in families with @entity6391 . DESIGN, SETTING, AND @entity1 : @entity1 and family members were recruited for the study and underwent clinical evaluation and genetic analyses. MAIN OUTCOMES AND MEASURES: Identification of sequence variants in genes using next-generation sequencing. RESULTS: We performed exome sequencing for 4 families, which was followed by Sanger sequencing of the identified mutations in 120 ethnicity-matched @entity1 . In total, we identified 4 @entity42970 missense mutations that cause @entity6391 . Three siblings of Moroccan Jewish ancestry were compound heterozygotes for @entity72007 and @entity72008 , and 6 @entity1 belonging to 4 families of Ashkenazi Jewish ancestry were homozygous for either @entity72009 or @entity72010 , or compound heterozygous for these 2 mutations. The mutations cosegregated with @entity6391 in the studied families, and the affected @entity535 residues are evolutionarily conserved. CONCLUSIONS AND RELEVANCE: Our study shows that @entity42970 mutations can cause @entity6391 and highlights yet another candidate for this genetically heterogeneous condition.
