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Article

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

The journal of gene medicine - 1 Oct 2023

Zaman Qaiser, Iftikhar Aiman, Rehman Gauhar, Khan Qadeem, Najumuddin, Jan Amin, Khan Jamshid, Anas Muhammad, Laiba, Umair Muhammad, Muthaffar Osama Yousef, Abdulkareem Angham Abdulrhman, Bibi Fehmida, Naseer Muhammad Imran, Jelani Musharraf

Abstract excerpt

BACKGROUND: Autosomal recessive cutis laxa type 2A (ARCL2A; OMIM: 219200) is characterized by neurovegetative, developmental and progeroid elastic skin anomalies. It is caused by biallelic variation in ATPase, H+ transporting V0 subunit A2 (ATP6V0A2; OMIM: 611716) located on chromosome 12q24.31. Autosomal recessive cutis laxa type 3A (ARCL3A; OMIM: 219150) is another subclinical type characterized by short...

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PMID: 37119015
DOI: 10.1002/jgm.3522

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