Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

July 2016 in “ Genes ”

Christeen Ramane J. Pedurupillay, Erlend Christoffer Sommer Landsend, Magnus Dehli Vigeland, Muhammad Ansar, Eirik Frengen, Doriana Misceo, Petter Strømme

alopecia non-syndromic alopecia LPAR6 hair growth disorders

TLDR Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.

Researchers investigated a consanguineous Pakistani family with two brothers showing visual impairment and non-syndromic alopecia. Whole exome sequencing identified two homozygous variants: PDE6H:c.35C>G (p.Ser12*) causing incomplete achromatopsia, and LPAR6:c.188A>T (p.Asp63Val) causing hypotrichosis type 8. The study confirmed the role of PDE6H in achromatopsia and LPAR6 in non-syndromic alopecia, highlighting the genetic basis of these conditions in the family and the importance of genetic testing in diagnosing rare congenital disorders.

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Research cited in this study

2 / 2 results

research Congenital Hair Loss Disorders: Rare, But Not Too Rare

41 citations, November 2011 in “The Journal of Dermatology”

Some hair loss disorders are caused by genetic mutations affecting hair growth.

research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

210 citations, February 2008 in “Nature genetics”

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

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