Disorders that disrupt the development of speech, language, or reading have substantial effects on social function. Researchers have implicated specific genetic variants in monogenic speech disorder,1 common language impairments,2,3 and dyslexia.4 With the report by Kang and colleagues in this issue of the Journal,5 stuttering joins the fray. Stuttering is a disorder in which speech fluency can...

PURPOSE A two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000) and keratoconus was identified. All affected individuals have bilateral keratoconus and congenital pigmentary retinopathy. The goal of this study was to link the disease phenotype in this family. METHODS Genomic DNA was amplified across the polymorphic microsatellite...

PURPOSE This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families. METHODS Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. An aliquot of blood was collected from all participating family members and genomic DNA was extrac...

The mutation spectrum of deafness genes may vary in different ethnical groups. In this study, we investigated the genetic etiology of nonsyndromic deafness in four consanguineous and two multiplex Uyghur families in which mutations in common deafness genes GJB2, SLC26A4 and MT-RNR1 were excluded. Targeted next-generation sequencing of 97 deafness genes was performed in the probands of each fami...

Consanguineous marriages are respected and practiced among more than one billion of the world’s populationwith consanguinity rates reaching 20–50%. Consanguinity increases risk congenital anomalies, autosomalrecessive disorders, perinatal antenatal morbidities. This study determines knowledge regardingconsanguineous its genetic effects young adults.Objectives: 1. To assess regarding consanguine...

Abstract Background Consanguineous marriage is widely practised across the world. Its effect on acute lymphoblastic leukaemia (ALL) controversial as both parents share some of genes which might increase incidence sharing recessive genes. However, other theories suggest that consanguinity have a protective factor it does for types cancers. This study aims to childhood ALL and consanguinity. Meth...

BACKGROUND X-linked retinoschisis (XLRS) is a leading cause of juvenile macular degeneration associated with mutations in the RS1 gene. XLRS has a variable expressivity in males and shows no clinical phenotype in carrier females. DESIGN Clinical and molecular characterization of male and female individuals affected with XLRS in a consanguineous family. PARTICIPANTS Consanguineous Eastern Eu...