Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report

Mohammed Omar Galal; Mohamed Hesham Mashali; Ahmad Zaheer; Zuhair Rahbeeni

doi:10.24911/JBCGenetics/183-1613027889

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Case Report
Online Published: 08 Aug 2021

JBCGenetics. 2021; 4(2): 122-125

doi: 10.24911/JBCGenetics/183-1613027889

Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report

Mohammed Omar Galal, Mohamed Hesham Mashali, Ahmad Zaheer, Zuhair Rahbeeni.

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.

Key words: Zimmermann-Laband syndrome, agenesis of left pulmonary artery, deafness, nail hypoplasia, inheritance

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Pubmed Style

Galal MO, Mashali MH, Zaheer A, Rahbeeni Z. Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report. JBCGenetics. 2021; 4(2): 122-125. doi:10.24911/JBCGenetics/183-1613027889

Web Style

Galal MO, Mashali MH, Zaheer A, Rahbeeni Z. Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report. https://www.jbcgenetics.com/?mno=54977 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1613027889

AMA (American Medical Association) Style

Galal MO, Mashali MH, Zaheer A, Rahbeeni Z. Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report. JBCGenetics. 2021; 4(2): 122-125. doi:10.24911/JBCGenetics/183-1613027889

Vancouver/ICMJE Style

Galal MO, Mashali MH, Zaheer A, Rahbeeni Z. Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report. JBCGenetics. (2021), [cited November 14, 2024]; 4(2): 122-125. doi:10.24911/JBCGenetics/183-1613027889

Harvard Style

Galal, M. O., Mashali, . M. H., Zaheer, . A. & Rahbeeni, . Z. (2021) Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report. JBCGenetics, 4 (2), 122-125. doi:10.24911/JBCGenetics/183-1613027889

Turabian Style

Galal, Mohammed Omar, Mohamed Hesham Mashali, Ahmad Zaheer, and Zuhair Rahbeeni. 2021. Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report. Journal of Biochemical and Clinical Genetics, 4 (2), 122-125. doi:10.24911/JBCGenetics/183-1613027889

Chicago Style

Galal, Mohammed Omar, Mohamed Hesham Mashali, Ahmad Zaheer, and Zuhair Rahbeeni. "Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report." Journal of Biochemical and Clinical Genetics 4 (2021), 122-125. doi:10.24911/JBCGenetics/183-1613027889

MLA (The Modern Language Association) Style

Galal, Mohammed Omar, Mohamed Hesham Mashali, Ahmad Zaheer, and Zuhair Rahbeeni. "Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report." Journal of Biochemical and Clinical Genetics 4.2 (2021), 122-125. Print. doi:10.24911/JBCGenetics/183-1613027889

APA (American Psychological Association) Style

Galal, M. O., Mashali, . M. H., Zaheer, . A. & Rahbeeni, . Z. (2021) Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report. Journal of Biochemical and Clinical Genetics, 4 (2), 122-125. doi:10.24911/JBCGenetics/183-1613027889

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