阿斯普利尼亚
异位
多脾
外显子组测序
医学
倒位
胡说
右位心
遗传学
儿科
表型
内科学
脾脏
生物
心脏病
基因
作者
Heng Gu,Zhongwei Yuan,Xiaohui Xie,Yifeng Yang,Zhiping Tan
标识
DOI:10.1038/s10038-022-01053-w
摘要
Heterotaxy syndrome is a very rare congenital disease, which is caused by the disorder of left-right asymmetry during visceral development. However, pathogenic genetic lesions are found in less than 20% of HS patients. In this cohort study, whole-exome sequencing was performed for 110 patients with situs inversus or situs ambiguous. We identified a novel nonsense variant in PKD1L1(c.1387 C > T; p.463Gln*) in a Chinese patient with heterotaxy syndrome and congenital asplenia. This homozygous variant caused the domain of PKD1L1 complete absence. To our knowledge, this novel variant is the first phenotype of congenital asplenia found in patients with PKD1L1 variants, and the first PKD1L1 variant found in China. Our findings expand the spectrum of PKD1L1 variants and provide support for PKD1L1 variant and congenital asplenia, and the critical role of PKD1L1 during left-right patterning in the Han Chinese population.
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