Clinical and mutation analysis of a case of Noonan-like syndrome with loose anagen hair
- VernacularTitle:努南样综合征伴生长期毛发松动1例基因检测分析
- Author:
Hongjin WU
1
;
Min LI
;
Shen WANG
;
Xiao YANG
;
Junyi XIE
;
Hongye ZHANG
;
Chuang SONG
;
Wen QIAN
;
Su YANG
Author Information
- Keywords: Noonan syndrome; Dermascopy; Noonan-like syndrome with loose anagen hair; SHOC2 gene
- From: Chinese Journal of Dermatology 2023;56(1):53-55
- CountryChina
- Language:Chinese
- Abstract: To report a case of Noonan-like syndrome with loose anagen hair, and to detect gene mutations in the family. A 3-year-old female patient presented with a special facial appearance, short stature, deep palmar and plantar creases, and dark skin. The scalp hair was sparse and thin, dermoscopy showed black spot sign, single-hair follicular units, hair shafts varying in the diameter, upright hair and new vellus hair, and constriction of hair shafts and nodular hair were occasionally observed. Peripheral blood samples were collected from the proband and her parents, and the genomic DNA was extracted for whole-exome sequencing. A heterozygous missense mutation c.4A>G was identified in exon 2 of the SHOC2 gene in the proband, resulting in the substitution of serine by glycine at amino acid position 2 (p.S2G) . The mutation was not identified in either of her parents. Combined with the clinical phenotype and gene mutation, the diagnosis of Noonan-like syndrome with loose anagen hair was confirmed.
