Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins.
Localized autosomal recessive hypotrichosis (LAH) is rare disorder affecting the scalp, trunk and extremities and largely sparing the facial, pubic and axillary hair. Mutations in desmoglein 4 (DSG4) gene are responsible for LAH which maps to human chromosome 18q12. In this study a recurrent intragenic deletion mutation (Ex5_8del) was identified in DSG4 gene in two Pakistani families of Balochi and Sindhi origins. Manifestation of identical intragenic deletion mutation in eight Pakistani families, six reported earlier and two here, is exceptionally evocative of the dispersion of ancestral chromosome in different ethnic groups through common ancestors.
John
Peter
P
Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
Tariq
Muhammad
M
Arshad Rafiq
Muhammad
M
Amin-Ud-Din
Muhammad
M
Muhammad
Dost
D
Waheed
Ishrat
I
Ansar
Muhammad
M
Ahmad
Wasim
W
D001483:Base Sequence; D051182:Desmogleins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008297:Male; D010154:Pakistan; D010375:Pedigree; D017384:Sequence Deletion
C473409:DSG4 protein, human; D051182:Desmogleins