Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
Qaiser ZamanAiman IftikharGauhar RehmanQadeem Khannull NajumuddinAmin JanJamshid KhanMuhammad Anasnull LaibaMuhammad UmairOsama Yousef MuthaffarAngham Abdulrhman AbdulkareemFehmida BibiMuhammad Imran NaseerMusharraf JelaniPublished in: The journal of gene medicine (2023)
To the best of our knowledge, this is the first report of ATP6V0A2 and ALDH18A1 variations in the Pakhtun ethnicity of Pakistani population. The study confirms that WES can be used as a first-line diagnostic test in patients with cutis laxa, and provides basis for population screening and premarital testing to reduce the diseases burden in future generations.