Two male patients from an extended seven generation Turkish family diagnosed with Renpenning syndrome: identifying the causative mutation and review of the literature

Intellectual disability (ID) is a lifelong condition that begins during the developmental period, and characterized by significant limitations in intellectual functioning adaptive behavior including social, conceptual practical skills. In these case series, we aimed to identify genetic etiopathogenesis of two male patients with ID from seven-generation large-Turkish family. Two affected boys syndromic were evaluated. Genome-wide auto zygosity mapping was performed on individuals other available healthy family members for identifying shared chromosomal segments between individuals. Critical region co-segregating disease confirmed narrowed down short tandem repeat polymorphism markers. Whole exome sequencing responsible genes mutations. Sanger segregation analysis. We comprehensive analysis reveal underlying aetiology identified mutation PQBP1 gene (NM_005710.2:c.459-462delAGAG) associated Renpenning syndrome. Considering clinical findings data probands, diagnosed syndrome this first report attention deficit hyperactivity disorder comorbidity.