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

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