Zhang Lei, Hu Yanqiu, Lu Jingjing, Zhao Peiwei, Zhang Xiankai, Tan Li, Li Jun, Xiao Cuiping, Zeng Linkong, He Xuelian
Precision Medical Center, Huazhong University of Science & Technology, Wuhan, China.
Dermatology Department, Huazhong University of Science & Technology, Wuhan, China.
Front Genet. 2022 Aug 8;13:931833. doi: 10.3389/fgene.2022.931833. eCollection 2022.
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 , being predicted to lead to an internal protein deletion of 97 amino acids. We also performed a retrospective analysis of 198 patients with mutations. The results suggested that the exon 9 and 10 are located in the mutational hotspots of . In addition, our patient has microtia and congenital stenosis of the external auditory canals, which is very rare in patients with 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 gene.
单亲二体（UPD）是一种罕见的遗传事件，由配子发生和受精过程中的错误引起，导致从一个亲本遗传的一条染色体或染色体区域的两个拷贝。混合UPD是UPD的一种类型，由于减数分裂重组，其包含等二体和异二体部分。使用全外显子组测序（WES），我们鉴定出首例因17号染色体上的母源混合UPD导致的鱼鳞病病例，这导致 中部分内含子8至外显子10的纯合缺失，预计会导致97个氨基酸的内部蛋白质缺失。我们还对198例 突变患者进行了回顾性分析。结果表明，外显子9和10位于 的突变热点区域。此外，我们的患者患有小耳畸形和先天性外耳道狭窄，这在 突变患者中非常罕见。我们的研究报告了首例因17号染色体混合UPD导致的常染色体隐性先天性鱼鳞病（ARCI）病例，并扩展了由 基因突变引起的ARCI的临床表现谱。
