Clinical feature and genetic analysis of a preterm infant with Netherton syndrome due to variants of SPINK5 gene
10.3760/cma.j.cn511374-20240823-00453
- VernacularTitle:SPINK5基因变异致Netherton综合征1例早产儿的临床及遗传学分析
- Author:
Lingling HU
1
;
Canyang ZHAN
1
;
Mingyu HAN
1
;
Tianming YUAN
1
;
Lihua CHEN
1
Author Information
1. 浙江大学医学院附属儿童医院新生儿科 国家儿童健康与疾病临床医学研究中心，杭州 310052
- Publication Type:Journal Article
- Keywords:
Netherton syndrome;
Premature infant;
SPINK5 gene;
Genetic variant
- From:
Chinese Journal of Medical Genetics
2025;42(3):330-335
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical characteristics and genetic variant in a premature infant with Netherton syndrome (NS).Methods:A neonate with NS caused by variants of SPINK5 gene diagnosed at the Children′s Hospital Affiliated to Zhejiang University School of Medicine in March 2020 was selected as the study subject. Clinical data and family history were collected. Peripheral blood samples (2 mL each) were obtained from the child and her parents for whole-exome sequencing (WES). Candidate variants were subjected to pathogenicity classification and deleteriousness evaluation. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No. 2024-IRB-0251-P-01). Results:The infant was born prematurely at 35 + 3 weeks due to "premature rupture of membranes for 4 hours" and exhibited generalized skin peeling, with meconium-stained amniotic fluid resembling bean curd residue. The condition improved with supportive treatments such as anti-infection and moisturizing therapy, though periodic hair loss had persisted. No similar case was reported by family history. WES has revealed a heterozygous c. 1130delG (p.G377Efs*127) variant in exon 14 of the SPINK5 gene, which was inherited from her mother, and deletion of exons 1 ~ 33 of the SPINK5 gene, which was inherited from her father. Conclusion:This case of NS presented with intrauterine onset in a preterm infant, which has not been previously reported. The identification of c. 1130delG (p.G377Efs*127) variant has expanded the mutation spectrum of the SPINK5 gene.
