Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy

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....

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Bibliographic Details
Main Authors: Lei Zhang, Yanqiu Hu, Jingjing Lu, Peiwei Zhao, Xiankai Zhang, Li Tan, Jun Li, Cuiping Xiao, Linkong Zeng, Xuelian He
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
ARCI
ALOX12B
whole-exome sequencing
mixed UPD (mixUPD)
microtia
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.931833/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.931833/full

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