Case Report
Volume: 4 | Issue: 2 | Published: Aug 08, 2021 | Pages: 122 - 125 | DOI: 10.24911/JBCGenetics/183-1613027889
Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report
Authors: Mohammed Omar Galal , Mohamed Hesham Mashali , Ahmad Zaheer , Zuhair Rahbeeni
Article Info
Authors
Mohammed Omar Galal
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
Mohamed Hesham Mashali
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
Ahmad Zaheer
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
Zuhair Rahbeeni
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Publication History
Received: February 17, 2021
Accepted: July 19, 2021
Published: August 08, 2021
Abstract
Background: ATP6V1B2 gene mutation is associated with Zimmermann-Laband syndrome 2 (ZLS2), which is a rare developmental disorder characterized by nail hypoplasia and hereditary deafness. Case Presentation: We report a new phenotypic mutation of ATP6V1B2 associated with ZLS 2. The patient has atresia of the left pulmonary artery (LPA) and features of hearing loss and nail hypoplasia. The other interesting part is that the child had two types of mutations inherited from father and mother. He is carrier for GJB2 mutation (inherited from father) and diseased with ATP6V1B2 mutation (inherited from mother). Conclusion: The association of ZLS features with absent LPA was not reported previously in the literature. This finding will add new information to the database of previously reported ATP6V1B2 rare mutations.
Keywords: Zimmermann-Laband syndrome, agenesis of left pulmonary artery, deafness, nail hypoplasia, inheritance
