努南样综合征伴生长期毛发松动1例基因检测分析

doi:10.35541/cjd.20210633

中华皮肤科杂志 ›› 2023, Vol. 56 ›› Issue (1): 53-55.doi: 10.35541/cjd.20210633

努南样综合征伴生长期毛发松动1例基因检测分析

吴红巾李敏王申杨潇谢骏逸张红叶宋闯钱雯杨苏

南京医科大学附属儿童医院皮肤科，南京 210008

收稿日期:2021-08-31 修回日期:2022-01-11 发布日期:2023-01-03
通讯作者: 杨苏 E-mail:654276709@qq.com

Clinical and mutation analysis of a case of Noonan-like syndrome with loose anagen hair

Wu Hongjin, Li Min, Wang Shen, Yang Xiao, Xie Junyi, Zhang Hongye, Song Chuang, Qian Wen, Yang Su

Department of Dermatology, Children′s Hospital of Nanjing Medical University, Nanjing 210008, China

Received:2021-08-31 Revised:2022-01-11 Published:2023-01-03
Contact: Yang Su E-mail:654276709@qq.com

摘要/Abstract

摘要： 【摘要】报道1例努南样综合征伴生长期毛发松动患者，检测分析其家系的基因突变情况。患儿女，3岁，特殊面容，身长矮小，手足掌纹多，皮肤颜色较深。头发稀疏细软，皮肤镜下可见黑点征，单一毛发毛囊单位，毛干直径粗细不等，直立发，新生毳毛，偶见发干缩窄、结节状发。采集先证者及其父母外周血，提取基因组DNA行全外显子组测序，结果显示，先证者SHOC2 基因2号外显子存在c.4A>G错义突变，导致第2号氨基酸由丝氨酸变为甘氨酸（p.S2G），患儿父母未检出该突变。结合临床表型与基因突变，确诊为努南样综合征伴生长期毛发松动。

关键词: 努南综合征, 皮肤镜检查, 努南样综合征伴生长期毛发松动, SHOC2基因

Abstract: 【Abstract】 To report a case of Noonan-like syndrome with loss 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, 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.

Key words: Noonan syndrome, Dermascopy, Noonan-like syndrome with loose anagen hair, SHOC2 gene

吴红巾李敏王申杨潇谢骏逸张红叶宋闯钱雯杨苏. 努南样综合征伴生长期毛发松动1例基因检测分析[J]. 中华皮肤科杂志, 2023,56(1):53-55. doi:10.35541/cjd.20210633

Wu Hongjin, Li Min, Wang Shen, Yang Xiao, Xie Junyi, Zhang Hongye, Song Chuang, Qian Wen, Yang Su. Clinical and mutation analysis of a case of Noonan-like syndrome with loose anagen hair[J]. Chinese Journal of Dermatology, 2023, 56(1): 53-55.doi:10.35541/cjd.20210633

参考文献 11

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努南样综合征伴生长期毛发松动1例基因检测分析

Clinical and mutation analysis of a case of Noonan-like syndrome with loose anagen hair

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