ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant

Recurrent exon 16 deletion with founder effect (southeastern Turkey), vacuolar H+-ATPase, impaired glycosylation

Several patients from southeastern Turkey with ATP6V0A2-related cutis laxa carry a recurrent exon 16 deletion, consistent with a regional founder effect. AR cutis laxa type 2 is characterized by progressive skin laxity, developmental delay, and neurological features; ATP6V0A2 encodes a vacuolar H+-ATPase subunit involved in N-glycosylation. This series expands the clinical spectrum by documenting neurological regression as a new feature, and highlights the importance of CNV techniques for detecting exonic deletions in this gene.

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Identification of a founder effect for ATP6V0A2 in southeastern Anatolia has direct implications for premarital/preconception genetic counseling in these populations. Reporting this recurrent variant to regional CNV databases will improve diagnosis in this high-consanguinity area.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10