Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)

genetic dissection of two pakistani families with consanguineous localized autosomal recessive hypotrichosis (lah)

objective(s): genetic analysis of two consanguineous pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. materials and methods: genomic dna extraction had been done from peripheral blood samples. extracted dna was then subjected to pcr (polymerase chain reaction) for amplification. linkage analysis was perf...

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Purpose The Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD). This study was carried out to delineate the genetic architecture of arRD in the Pakistani population. Methods The genetic origin of arRD in a total of 144 families selected only for having consanguineous marriages and multiple members...

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1

PURPOSE To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families. METHODS All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected a...

Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families.

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients' molecular and clinical diagnoses. In this study, we wanted to clinically characterize and investigate the molecular etiology of an atypical form of autosomal recessive retinal dystrophy in two consanguineous Spanish families. Affected members of the respective families exhibite...