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Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum

Birk–Landau–Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in the SLC30A9 gene, initially reported in 2017 in six individuals belonging to a large Bedouin kindred. The SLC30A9 gene encodes a putative mitochondrial zinc transporter with ubiqu...

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Autores principales: Kizhakkedath, Praseetha, AlDhaheri, Watfa, Baydoun, Ibrahim, Tabouni, Mohammed, John, Anne, Almansoori, Taleb M., Al-Turki, Saeed, Al-Jasmi, Fatma, Alblooshi, Hiba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10414535/
https://www.ncbi.nlm.nih.gov/pubmed/37576556
http://dx.doi.org/10.3389/fgene.2023.1219514
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author Kizhakkedath, Praseetha
AlDhaheri, Watfa
Baydoun, Ibrahim
Tabouni, Mohammed
John, Anne
Almansoori, Taleb M.
Al-Turki, Saeed
Al-Jasmi, Fatma
Alblooshi, Hiba
author_facet Kizhakkedath, Praseetha
AlDhaheri, Watfa
Baydoun, Ibrahim
Tabouni, Mohammed
John, Anne
Almansoori, Taleb M.
Al-Turki, Saeed
Al-Jasmi, Fatma
Alblooshi, Hiba
author_sort Kizhakkedath, Praseetha
collection PubMed
description Birk–Landau–Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in the SLC30A9 gene, initially reported in 2017 in six individuals belonging to a large Bedouin kindred. The SLC30A9 gene encodes a putative mitochondrial zinc transporter with ubiquitous expression, the highest found in the brain, kidney, and skeletal muscle. Since the first report, only one additional affected patient has been described, but there were some inconsistencies, such as hearing loss, failure to thrive, and neuroimaging findings between the clinical presentation of the disease in the Bedouin family and the second patient. Here, we present two more patients from a consanguineous Middle Eastern family with features of chronic kidney disease, neurodevelopmental regression, ataxia, hearing loss, and eye abnormalities, which were largely consistent with BILAPES. Whole-exome sequencing detected a homozygous in-frame deletion c.1049_1051delCAG (p.Ala350del) in the SLC30A9 gene, which was the same variant detected in the patients from the primary literature report and the variant segregated with disease in the family. However, in the patients described here, brain MRI showed cerebellar atrophy, which was not a cardinal feature of the syndrome from the primary report. Our findings provide further evidence for SLC30A9-associated BILAPES and contribute to defining the clinical spectrum.
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spelling pubmed-104145352023-08-11 Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum Kizhakkedath, Praseetha AlDhaheri, Watfa Baydoun, Ibrahim Tabouni, Mohammed John, Anne Almansoori, Taleb M. Al-Turki, Saeed Al-Jasmi, Fatma Alblooshi, Hiba Front Genet Genetics Birk–Landau–Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in the SLC30A9 gene, initially reported in 2017 in six individuals belonging to a large Bedouin kindred. The SLC30A9 gene encodes a putative mitochondrial zinc transporter with ubiquitous expression, the highest found in the brain, kidney, and skeletal muscle. Since the first report, only one additional affected patient has been described, but there were some inconsistencies, such as hearing loss, failure to thrive, and neuroimaging findings between the clinical presentation of the disease in the Bedouin family and the second patient. Here, we present two more patients from a consanguineous Middle Eastern family with features of chronic kidney disease, neurodevelopmental regression, ataxia, hearing loss, and eye abnormalities, which were largely consistent with BILAPES. Whole-exome sequencing detected a homozygous in-frame deletion c.1049_1051delCAG (p.Ala350del) in the SLC30A9 gene, which was the same variant detected in the patients from the primary literature report and the variant segregated with disease in the family. However, in the patients described here, brain MRI showed cerebellar atrophy, which was not a cardinal feature of the syndrome from the primary report. Our findings provide further evidence for SLC30A9-associated BILAPES and contribute to defining the clinical spectrum. Frontiers Media S.A. 2023-07-27 /pmc/articles/PMC10414535/ /pubmed/37576556 http://dx.doi.org/10.3389/fgene.2023.1219514 Text en Copyright © 2023 Kizhakkedath, AlDhaheri, Baydoun, Tabouni, John, Almansoori, Al-Turki, Al-Jasmi and Alblooshi. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Kizhakkedath, Praseetha
AlDhaheri, Watfa
Baydoun, Ibrahim
Tabouni, Mohammed
John, Anne
Almansoori, Taleb M.
Al-Turki, Saeed
Al-Jasmi, Fatma
Alblooshi, Hiba
Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum
title Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum
title_full Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum
title_fullStr Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum
title_full_unstemmed Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum
title_short Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum
title_sort case report: birk–landau–perez syndrome linked to the slc30a9 gene—identification of additional cases and expansion of the phenotypic spectrum
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10414535/
https://www.ncbi.nlm.nih.gov/pubmed/37576556
http://dx.doi.org/10.3389/fgene.2023.1219514
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