Although the recent Pakistan Demographic and Health Survey (DHS) show that two-thirds of marriages in Pakistan are consanguineous, the sociocultural determinants of such marriages remain largely unexplored. This paper examines the relative importance of the three commonly perceived reasons for such marriages: religious, economic and cultural. The analysis is based on qualitative data collected ...

The present study focuses on the effect of parental consanguinity on genetic disorders in the Iranian population, which is predominantly Muslim and where consanguineous marriages are quite common. Data were collected from three genetic centers from different areas of Tehran. Out of 800 affected subjects nearly 44% were born to consanguineous parents. While 37.8% of them were born out of paralle...

PURPOSE To identify the underlying genetic causes of fundus albipunctatus (FA), a rare form of congenital stationary night blindness that is characterized by the presence of white dots in the midperiphery of the retina and delayed dark adaptation, in Pakistan. METHODS Two families with FA were identified by fundus examination, and genome-wide single nucleotide polymorphism genotyping was perf...

BACKGROUND Development of verbal skills during early childhood and school age years is consequential for children's educational achievement and adult outcomes. We examine ethnic differences in longitudinal latent verbal profiles and assess the contribution of family process and family resource factors to observed differences. METHODS Using data from the UK Millennium Cohort Study and the late...

Distal hereditary motor neuropathies represent a group of rare genetic disorders characterized by progressive distal motor weakness without sensory loss. Their genetic heterogeneity is high and thus eligible for diagnostic whole exome sequencing. The authors report successful application of whole exome sequencing in diagnosing a second consanguineous family with distal hereditary motor neuropat...

Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these children represents the Goldberg-Shprintzen syndrome (OMIM 235730). Mutation scanni...