Cargando…

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....

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Lei, Hu, Yanqiu, Lu, Jingjing, Zhao, Peiwei, Zhang, Xiankai, Tan, Li, Li, Jun, Xiao, Cuiping, Zeng, Linkong, He, Xuelian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
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
_version_ 1784771233912455168
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
work_keys_str_mv AT zhanglei identificationofthefirstcongenitalichthyosiscasecausedbyahomozygousdeletioninthealox12bgeneduetochromosome17mixeduniparentaldisomy
AT huyanqiu identificationofthefirstcongenitalichthyosiscasecausedbyahomozygousdeletioninthealox12bgeneduetochromosome17mixeduniparentaldisomy
AT lujingjing identificationofthefirstcongenitalichthyosiscasecausedbyahomozygousdeletioninthealox12bgeneduetochromosome17mixeduniparentaldisomy
AT zhaopeiwei identificationofthefirstcongenitalichthyosiscasecausedbyahomozygousdeletioninthealox12bgeneduetochromosome17mixeduniparentaldisomy
AT zhangxiankai identificationofthefirstcongenitalichthyosiscasecausedbyahomozygousdeletioninthealox12bgeneduetochromosome17mixeduniparentaldisomy
AT tanli identificationofthefirstcongenitalichthyosiscasecausedbyahomozygousdeletioninthealox12bgeneduetochromosome17mixeduniparentaldisomy
AT lijun identificationofthefirstcongenitalichthyosiscasecausedbyahomozygousdeletioninthealox12bgeneduetochromosome17mixeduniparentaldisomy
AT xiaocuiping identificationofthefirstcongenitalichthyosiscasecausedbyahomozygousdeletioninthealox12bgeneduetochromosome17mixeduniparentaldisomy
AT zenglinkong identificationofthefirstcongenitalichthyosiscasecausedbyahomozygousdeletioninthealox12bgeneduetochromosome17mixeduniparentaldisomy
AT hexuelian identificationofthefirstcongenitalichthyosiscasecausedbyahomozygousdeletioninthealox12bgeneduetochromosome17mixeduniparentaldisomy