伴新发OFD1基因突变的口-面-指综合征Ⅰ型1例

doi:10.35541/cjd.20240284

中华皮肤科杂志 ›› 2025, e20240284.doi: 10.35541/cjd.20240284

伴新发OFD1基因突变的口-面-指综合征Ⅰ型1例

邵莉梅¹ 李明² 万明顺¹ 苗颖颖¹ 崔文娟¹ 陈玲境¹ 马赵帮³

¹杭州市儿童医院皮肤科，杭州 310015；²国家儿童医学中心，复旦大学附属儿科医院皮肤科，上海 201102；³淮北市人民医院骨科，淮北 235000

收稿日期:2024-05-27 修回日期:2024-09-05 发布日期:2025-02-08
通讯作者: 马赵帮 E-mail:976143460@qq.com

A novel OFD1 gene mutation in a case of oral-facial-digital syndrome type 1

Shao Limei¹, Li Ming², Wan Mingshun¹, Miao Yingying¹, Cui Wenjuan¹, Chen Lingjing¹, Ma Zhaobang³

¹Department of Dermatology, Hangzhou Children's Hospital, Hangzhou 310015, China; ²Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China; ³Department of Orthopedics, Huaibei People's Hospital, Huaibei 235000, Anhui, China

Received:2024-05-27 Revised:2024-09-05 Published:2025-02-08
Contact: Ma Zhaobang E-mail:976143460@qq.com

摘要/Abstract

摘要： 患儿女，4岁6个月，因毛发稀疏4年、多发片状脱发7个月至杭州市儿童医院皮肤科就诊。患儿出生时头发稀疏细软，容易脱落，7个月前出现片状脱发，逐渐增多，未见明显断发及鳞屑……

邵莉梅李明万明顺苗颖颖崔文娟陈玲境马赵帮. 伴新发OFD1基因突变的口-面-指综合征Ⅰ型1例[J]. 中华皮肤科杂志, 2025,e20240284. doi:10.35541/cjd.20240284

Shao Limei, Li Ming, Wan Mingshun, Miao Yingying, Cui Wenjuan, Chen Lingjing, Ma Zhaobang. A novel OFD1 gene mutation in a case of oral-facial-digital syndrome type 1[J]. Chinese Journal of Dermatology,2025,e20240284. doi:10.35541/cjd.20240284

参考文献 6

［1］	Franco B, Thauvin⁃Robinet C. Update on oral⁃facial⁃digital syndromes （OFDS）［J］. Cilia, 2016,5:12. doi: 10.1186/s13630⁃016⁃0034⁃4.
［2］	Pezzella N, Bove G, Tammaro R, et al. OFD1: one gene, several disorders［J］. Am J Med Genet C Semin Med Genet, 2022,190（1）:57⁃71. doi: 10.1002/ajmg.c.31962.
［3］	Ferrante MI, Giorgio G, Feather SA, et al. Identification of the gene for oral⁃facial⁃digital type I syndrome［J］. Am J Hum Genet, 2001,68（3）:569⁃576. doi: 10.1086/318802.
［4］	Macca M, Franco B. The molecular basis of oral⁃facial⁃digital syndrome, type 1［J］. Am J Med Genet C Semin Med Genet, 2009,151C（4）:318⁃325. doi: 10.1002/ajmg.c.30224.
［5］	Ko YW, Ko JY, Ro YS, et al. Oral⁃facial⁃digital syndrome type 1: a case report and review［J］. Ann Dermatol, 2022,34（2）:132⁃135. doi: 10.5021/ad.2022.34.2.132.
［6］	Yamada M, Uehara T, Suzuki H, et al. IFT172 as the 19th gene causative of oral⁃facial⁃digital syndrome［J］. Am J Med Genet A, 2019,179（12）:2510⁃2513. doi: 10.1002/ajmg.a.61373.

伴新发OFD1基因突变的口-面-指综合征Ⅰ型1例

A novel OFD1 gene mutation in a case of oral-facial-digital syndrome type 1

PDF

PDF (Mobile)

可视化

摘要/Abstract

引用本文

使用本文

参考文献 6

相关文章 0

Metrics

本文评价

推荐阅读 10