中国麻风皮肤病杂志 ›› 2025, Vol. 41 ›› Issue (11): 788-792.doi: 10.12144/zgmfskin20211788

• 论著 • 上一篇    下一篇

FAM111B基因突变致遗传性纤维性皮肤异色病伴跟腱挛缩、肌病和肺纤维化一例

李佳雯1，2,杨锦向1，2,潘超兰1，2,梁键莹1，2,余霞1，2,姚志荣1，2   

  1. 1上海交通大学医学院附属新华医院皮肤科，上海，200092；2上海交通大学医学院附属皮肤病研究所，上海，200092
  • 出版日期:2025-11-15 发布日期:2025-11-07

A case of hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis caused by a FAM111B gene mutation

LI Jiawen1,2, YANG Jinxiang1,2, PAN Chaolan1,2, LIANG Jianying1,2, YU Xia1,2, YAO Zhirong1,2   

  1. 1 Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China; 2 Institute of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
  • Online:2025-11-15 Published:2025-11-07

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摘要： 目的：报道1例遗传性纤维性皮肤异色病伴跟腱挛缩、肌病和肺纤维化患者并检测患者及其家系的基因突变情况。方法：收集患儿临床资料并进行体格检查，采集患儿及其父母外周血，提取基因组DNA，采用高通量测序技术对遗传性皮肤病相关基因进行筛查，并通过Sanger测序验证候选突变位点。应用蛋白结构预测软件评估突变对FAM111B蛋白结构的潜在影响。结果：患者表现为皮肤色素异常、眉毛稀疏及胆汁淤积,其母有相同皮损表现。在患儿FAM111B基因中检测到c.1883G＞A（p.Ser628Asn）杂合突变；其母亲亦携带相同的杂合变异，而其父亲未检测到该突变。该变异在100名无亲缘关系的健康对照者中均未检出。通过蛋白质位点结构分析发现p.Ser628Asn变异可通过改变氨基酸侧链的化学性质，导致突变后新生的Asn628与相邻的Thr625残基之间的氢键相互作用减弱。结论：本例患儿及其母亲均携带FAM111B基因c.1883G＞A（p.Ser628Asn）杂合突变，为该家系的致病基因。

关键词: FAM111B基因, 遗传性纤维性皮肤异色病伴跟腱挛缩、肌病和肺纤维化, 遗传筛查

Abstract: Objective: To report a case of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP), and to detect gene mutations in the patient and their family. Methods: The clinical data of the child patient were collected, and a physical examination was conducted. Peripheral blood samples were collected from the patient and their parents, and genomic DNA was extracted. High-throughput sequencing technology was used to screen genes related to hereditary skin diseases, and Sanger sequencing was employed to verify candidate mutation sites. Protein structure prediction software was applied to evaluate the potential impact of the mutation on the structure of the FAM111B protein. Results: The patient presented with abnormal skin pigmentation, sparse eyebrows, and cholestasis, while the patient's mother showed the same skin lesion manifestations. A heterozygous mutation c.1883G＞A (p.Ser628Asn) was detected in the FAM111B gene of the patient; the patient's mother also carried the same heterozygous variant, whereas the patient's father did not. This variant was not detected in 100 unrelated healthy controls. Analysis of the protein site structure revealed that the p.Ser628Asn variant could alter the chemical properties of the amino acid side chain, leading to weakened hydrogen bond interaction between the newly formed Asn628 and the adjacent Thr625 residue after the mutation. Conclusion: Both the child patient and their mother carry the heterozygous mutation c.1883G＞A (p.Ser628Asn) in the FAM111B gene, which is the pathogenic gene for this family.

Key words: FAM111B gene, POIKTMP, genetic screening