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Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy
Uniparental disomy (UPD) is a rare genetic event caused by errors during gametogenesis and fertilization leading to two copies of a chromosome or chromosomal region inherited from one parent. MixUPD is one type of UPD that contains isodisomic and heterodisomic parts because of meiotic recombination....
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393266/ https://www.ncbi.nlm.nih.gov/pubmed/36003334 http://dx.doi.org/10.3389/fgene.2022.931833 |
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author | Zhang, Lei Hu, Yanqiu Lu, Jingjing Zhao, Peiwei Zhang, Xiankai Tan, Li Li, Jun Xiao, Cuiping Zeng, Linkong He, Xuelian |
author_facet | Zhang, Lei Hu, Yanqiu Lu, Jingjing Zhao, Peiwei Zhang, Xiankai Tan, Li Li, Jun Xiao, Cuiping Zeng, Linkong He, Xuelian |
author_sort | Zhang, Lei |
collection | PubMed |
description | Uniparental disomy (UPD) is a rare genetic event caused by errors during gametogenesis and fertilization leading to two copies of a chromosome or chromosomal region inherited from one parent. MixUPD is one type of UPD that contains isodisomic and heterodisomic parts because of meiotic recombination. Using whole-exome sequencing (WES), we identified the first case of ichthyosis due to a maternal mixUPD on chromosome 17, which results in a homozygous deletion of partial intron 8 to exon 10 in ALOX12B, being predicted to lead to an internal protein deletion of 97 amino acids. We also performed a retrospective analysis of 198 patients with ALOX12B mutations. The results suggested that the exon 9 and 10 are located in the mutational hotspots of ALOX12B. In addition, our patient has microtia and congenital stenosis of the external auditory canals, which is very rare in patients with ALOX12B mutations. Our study reports the first case of autosomal recessive congenital ichthyosis (ARCI) due to a mixUPD of chromosome 17 and expands the spectrum of clinical manifestations of ARCI caused by mutations in the ALOX12B gene. |
format | Online Article Text |
id | pubmed-9393266 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93932662022-08-23 Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy Zhang, Lei Hu, Yanqiu Lu, Jingjing Zhao, Peiwei Zhang, Xiankai Tan, Li Li, Jun Xiao, Cuiping Zeng, Linkong He, Xuelian Front Genet Genetics Uniparental disomy (UPD) is a rare genetic event caused by errors during gametogenesis and fertilization leading to two copies of a chromosome or chromosomal region inherited from one parent. MixUPD is one type of UPD that contains isodisomic and heterodisomic parts because of meiotic recombination. Using whole-exome sequencing (WES), we identified the first case of ichthyosis due to a maternal mixUPD on chromosome 17, which results in a homozygous deletion of partial intron 8 to exon 10 in ALOX12B, being predicted to lead to an internal protein deletion of 97 amino acids. We also performed a retrospective analysis of 198 patients with ALOX12B mutations. The results suggested that the exon 9 and 10 are located in the mutational hotspots of ALOX12B. In addition, our patient has microtia and congenital stenosis of the external auditory canals, which is very rare in patients with ALOX12B mutations. Our study reports the first case of autosomal recessive congenital ichthyosis (ARCI) due to a mixUPD of chromosome 17 and expands the spectrum of clinical manifestations of ARCI caused by mutations in the ALOX12B gene. Frontiers Media S.A. 2022-08-08 /pmc/articles/PMC9393266/ /pubmed/36003334 http://dx.doi.org/10.3389/fgene.2022.931833 Text en Copyright © 2022 Zhang, Hu, Lu, Zhao, Zhang, Tan, Li, Xiao, Zeng and He. 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 Zhang, Lei Hu, Yanqiu Lu, Jingjing Zhao, Peiwei Zhang, Xiankai Tan, Li Li, Jun Xiao, Cuiping Zeng, Linkong He, Xuelian Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy |
title | Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy |
title_full | Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy |
title_fullStr | Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy |
title_full_unstemmed | Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy |
title_short | Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy |
title_sort | identification of the first congenital ichthyosis case caused by a homozygous deletion in the alox12b gene due to chromosome 17 mixed uniparental disomy |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393266/ https://www.ncbi.nlm.nih.gov/pubmed/36003334 http://dx.doi.org/10.3389/fgene.2022.931833 |
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