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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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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. |
format | Online Article Text |
id | pubmed-10414535 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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