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

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.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1613027889

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


© Copyright: Author(s)

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


Authors
Mohammed Omar Galal
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
PubMed articlesGoogle scholar articles

Mohamed Hesham Mashali
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
PubMed articlesGoogle scholar articles

Ahmad Zaheer
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
PubMed articlesGoogle scholar articles

Zuhair Rahbeeni
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles


Correspondence to:
. Mohammed Omar Galal, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia.; Omar@galal.ch

Publication history
Received 17 Feb 2021
Revised 24 May 2021
Accepted 19 Jul 2021
Published online 29 Jul 2021
Published in print 28 Aug 2021

How to cite this article

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: December 08, 2021]. 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 December 08, 2021]; 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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