Congenital anomalies of the kidney and urinary tract complicated with ichthyosis associated with Xp22.3 microdeletion and a novo missense mutation of EHMT1
10.3760/cma.j.cn101070-20241112-00736
- VernacularTitle:X染色体p22.3微缺失及 EHMT1基因新发错义突变导致先天性肾脏和泌尿道发育异常合并鱼鳞病1例
- Author:
Yingchao PENG
1
;
Zhuo SHI
1
;
Zhengkun XIA
1
;
Chunlin GAO
1
Author Information
1. 南京大学医学院附属金陵医院儿科，南京 210002
- Publication Type:Journal Article
- Keywords:
X-linked recessive;
Ichthyosis;
Congenital anomalies of the kidney and urinary tract;
ANOS1 gene;
STS gene;
EHMT1 gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(12):950-952
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a case of congenital anomalies of the kidney and urinary tract(CAKUT) complicated with ichthyosis diagnosed at Department of Pediatrics, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University in November 2023 were retrospectively analyzed.The patient, male, 12 years old, exhibited left renal agenesis, right renal dysplasia, renal insufficiency, proteinuria, and ichthyosis.Whole-exome sequencing identified a microdeletion of approximately 1.80 Mb at p22.31 of the X-chromosome, encompassing the ANOS1 and STS genes.Additionally, a heterozygous missense mutation in the EHMT1 gene (c.3664C>A, exon26) on chromosome 9 was detected.The father is clinically normal and did not carry either variant.The mother has proteinuria and was found to carry the same X-chromosome microdeletion as the proband.
