Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
Muhammad Ajmal1, Saima Mustafa1, Fizza Ibrahim Bajwa1, Cheng Zhou2, Guangdong Wen2, Soe Lwin Myint2, Syed Irfan Raza3, Ihtasham Bukhari4, Mubashir Hassan5, Muhammad Faisal6 and Furhan Iqbal1*
Pedigree and genotyping results for families PK-ALO-01 and 02 at nucleotide 429 (exon 2) of HR gene along with phenotypic appearance of affected subjects in family PK-ALO-01; Subject III: 8 had no eye-lashes and scalp hairs, Subject IV: 10 had no eye-lashes with paucity of scalp hairs. In PK-ALO-02, subject III: 28 had no eye-lashes and scalp hairs.
Histogram showing the DNA sequence analysis of HR gene mutation. A, Wild type sequence at position 429 in subject III:9 (PK-ALO-01); B, Heterozygous sequence in subject II:1 (PK-ALO-01); C, Homozygous deletion of a nucleotide C at position 429 in subject III:10 (PK-ALO-02).
A, Clastal omega analysis of HR protein in different vertebrates. Mutant amino acid Cysteine is highly conserved among all species and highlighted gray. Asterisks represent the highly conserved amino acids; B, The predicted structure of wild protein; C, mutant protein structure.