Published January 1, 2019
| Version v1
Journal article
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A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing
Creators
- 1. Istanbul Bilim Univ, Dept Hematol, Fac Med, Istanbul, Turkey
- 2. Istanbul Univ, Dept Histol & Embryol, Istanbul Fac Med, Istanbul, Turkey
- 3. Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey
- 4. Istanbul Bilim Univ, Dept Mol Biol & Genet, Istanbul, Turkey
Description
Objective: Autosomal recessive cutis laxa type IIA (ARCL2A) is a rare congenital disorder characterized by loose arid elastic skin, growth and developmental delay, and skeletal anomalies. It is caused by biallelic mutations in ATP6V0A2. Those mutations lead to increased pH in secretory vesicles and thereby to impaired glycosyltransferase activity and organelle trafficking. We aimed to identify the genetic and molecular cause of the unexpected hematological findings in a Turkish family.
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