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一名胎儿双侧肾脏增大且回声增强、腹部增大并羊水过少，其该基因存在一个新发亚显微缺失和一个遗传性移码致病变异的复合杂合性。

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios.

作者信息

Sakyu Takuya, Stover Samantha R, Wang Yue, Ward Patricia, Gandhi Manisha, Braun Michael C, Van den Veyver Ignatia B, Bi Weimin

机构信息

Baylor Genetics Houston Texas USA.

Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA.

出版信息

Clin Case Rep. 2023 Feb 23;11(2):e6692. doi: 10.1002/ccr3.6692. eCollection 2023 Feb.

DOI:10.1002/ccr3.6692
PMID:36846174
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9950036/
Abstract

We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in . This is the first case of autosomal recessive polycystic kidney disease (ARPKD) with a prenatally detected disease-causing deletion.

摘要

我们报告一例双侧肾脏增大且呈高回声的胎儿。产前检测发现其存在一个0.676Mb的新发缺失以及一个遗传性致病变异的复合杂合性。这是首例产前检测到致病缺失的常染色体隐性多囊肾病（ARPKD）病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a87/9950036/96b16b98dfe6/CCR3-11-e6692-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a87/9950036/116b7bd6947d/CCR3-11-e6692-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a87/9950036/96b16b98dfe6/CCR3-11-e6692-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a87/9950036/116b7bd6947d/CCR3-11-e6692-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a87/9950036/96b16b98dfe6/CCR3-11-e6692-g001.jpg

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Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios.一名胎儿双侧肾脏增大且回声增强、腹部增大并羊水过少，其该基因存在一个新发亚显微缺失和一个遗传性移码致病变异的复合杂合性。
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