A case of Noonan syndrome-like disorder with loose anagen hair 2 and literature review
10.3760/cma.j.cn101070-20250101-00002
- VernacularTitle:努南样综合征伴生长期毛发松动2型1例并文献复习
- Author:
Guojing WU
1
;
Shu LIU
1
;
Xianqiong LUO
1
Author Information
1. 广东省妇幼保健院儿童内分泌遗传代谢科，广州 511442
- Publication Type:Journal Article
- Keywords:
PPP1CB gene;
Variation;
Noonan syndrome-like disorder with loose anagen hair 2;
Developmental delay;
Review
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(8):629-632
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical phenotypes and genetic characteristics of Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) caused by PPP1CB variants. Methods:A case summary.Clinical data, laboratory findings, and imaging studies were collected from a patient with NSLH2 treated at Guangdong Women and Children Hospital in January 2024.Genomic DNA was extracted from the proband and his parents for whole-exome sequencing, with pathogenic variants verified by Sanger sequencing.Literature review was conducted to analyze clinical phenotypes, genetic features, and management approaches in NSLH2.Results:The patient manifested short stature, developmental delay, distinctive facial features, sparse eyebrows, slow hair growth, coarse hair texture, and hypotrichosis.Whole-exome sequencing identified a de novo heterozygous PPP1CB variant (c.146C>G, p.Pro49Arg).Literature review identified 26 reported cases (including this one), with cardinal features including developmental delay, impaired hair growth, abnormal hair texture, characteristic facies, congenital heart disease, short stature, and central nervous system abnormalities. Conclusions:NSLH2 is an autosomal dominant disorder caused by PPP1CB variants with characteristic manifestations.Genetic testing should be considered for children presenting with distinctive facies, developmental delay, impaired hair growth, and abnormal hair texture to establish a definitive diagnosis.
