A recurrent missense mutation in the LPAR6 gene underlies hereditary hypotrichosis

Zarlashta Sharif,Fazal Ur Rehman ,Sheikh Salahuddin Ahmed ,Muhammad Ayub Ashif Sajjad

doi:10.19045/bspab.2017.60072

Abstract

Hypotrichosis is a heritable condition described by sparse hairs, sparse to absent eyebrows, eyelashes, axillary, and body hair, but with normal teeth and nails. Genotyping was carried out of family from fourth generation from district Sibi, Balochistan, having two affected males and one female. Genotyping was done targeting LPAR6-linked microsatellite markers present on chromosome 13q14.11-q21.32. The exon located on LPAR6 gene, were amplified of both affected and normal individuals of the family revealing linkage at locus on chromosome 13. Sequencing result of the LPAR6, shown a recurrent missense mutation c.436G>A, p. G146R) in a family. A recurrent missense mutation revealed in the current investigation encompass the evidence of LPAR6 gene hereditary hypotrichosis. Keywords: Hereditary hypotrichosis; LPAR6 gene; Missense mutation http://dx.doi.org/10.19045/bspab.2017.60072

Highlights

Hypotrichosis is a heritable condition described by sparse hairs, sparse to absent eyebrows, eyelashes, axillary, and body hair, but with normal teeth and nails
A recurrent missense mutation revealed in the current investigation encompass the evidence of LPAR6 gene hereditary hypotrichosis
Clinical features In the present study, a family was enrolled with phenotypic hereditary Hypotrichosis characterized by sparse hair on the scalp, sparse eyelashes & eyebrows, they have a normal teeth and nails (Figure 2)

Summary

Introduction

Hypotrichosis is a heritable condition described by sparse hairs, sparse to absent eyebrows, eyelashes, axillary, and body hair, but with normal teeth and nails. The exon located on LPAR6 gene, were amplified of both affected and normal individuals of the family revealing linkage at locus on chromosome 13. Sequencing result of the LPAR6, shown a recurrent missense mutation c.436G>A, p. A recurrent missense mutation revealed in the current investigation encompass the evidence of LPAR6 gene hereditary hypotrichosis. Malformations of the hair on scalp, and oleoyl-Lalpha-Lysophodphatidic acid eyelashes and eyebrows but the affected (LPA) which serves as ligand for the P2Y5 a individuals have normal teeth and nails. The expression of LPAR6 gene take place in recessive, autosomal dominant X-linked innermost part of hair follicle [3,4,5] and inheritance. LARP6 coded protein consists of La motif only recently that autosomal recessive (LAM) and a RNA recognition motif (RRM)

Results

Discussion

Conclusion