刘周亮, 杨超, 汪慧君, 林志淼. Basan综合征的临床特征、基因分析及文献回顾[J]. 罕见病研究, 2023, 2(2): 178-185. DOI: 10.12376/j.issn.2097-0501.2023.02.006
引用本文: 刘周亮, 杨超, 汪慧君, 林志淼. Basan综合征的临床特征、基因分析及文献回顾[J]. 罕见病研究, 2023, 2(2): 178-185. DOI: 10.12376/j.issn.2097-0501.2023.02.006
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LIU Zhouliang, YANG Chao, WANG Huijun, LIN Zhimiao. Clinical Features and Mutation Analysis of the SMARCAD1 Gene in a Family with Basan Syndrome and a Literature Review[J]. Journal of Rare Diseases, 2023, 2(2): 178-185. DOI: 10.12376/j.issn.2097-0501.2023.02.006
Citation: LIU Zhouliang, YANG Chao, WANG Huijun, LIN Zhimiao. Clinical Features and Mutation Analysis of the SMARCAD1 Gene in a Family with Basan Syndrome and a Literature Review[J]. Journal of Rare Diseases, 2023, 2(2): 178-185. DOI: 10.12376/j.issn.2097-0501.2023.02.006
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Basan综合征的临床特征、基因分析及文献回顾

Clinical Features and Mutation Analysis of the SMARCAD1 Gene in a Family with Basan Syndrome and a Literature Review

    摘要
  • 摘要:
      目的  总结Basan综合征的临床特征及基因分析。
      方法  对2022年于南方医科大学皮肤病医院收治并确诊的Basan综合征家系，归纳一般资料，总结临床特征及基因型特点，并回顾性分析既往报道所有Basan综合征患者的特点及相关基因突变。
      结果  共收集确诊Basan综合征患者18例，其中男性9例，女性9例。18例均出现出生时即无指纹(18/18，100%)，部分患者出现指关节垫、掌跖角化过度、甲萎缩、甲分离、甲纵脊等。症状轻重不一。同时发现7例患者SMARCAD1 (NM_020159.5)基因1号内含子上出现c.-10+1G＞T(即c.378+1G＞T)突变，造成异常剪接。
      结论  本文可为疾病的早期诊断提供帮助，有助于提高临床医生的诊断与鉴别水平。

     

    Abstract:
      Objective  To summarize the clinical features of a family with Basan syndrome and to analyze mutation of the SMARCAD1 gene.
      Methods  The Basan family was diagnosed at Dermatology Hospital, Southern Medical University in 2022. Backgroud data was collected, and clinical and genetic characteristics were analyzed. Meanwhile, a retrospective analysis of features and associated genetic mutations reported in all patients with Basan syndrome was conducted.
      Results  A total of 18 patients with Basan syndrome were identified, including 9 males and 9 females. All 18 patients had no fingerprints at birth (18/18, 100%), and some patients had knuckle pads, palmoplantar hyperkeratosis, nail atrophy, nail separation, and longitudinal nail ridges. Symptoms vary in severity. At the same time, it was found that c.-10+1G > T (as well as c.378+1G > T)mutations appeared on the intron 1 of the SMARCAD1 (NM_020159.5) gene in 7 patients, resulting in abnormal splicing.
      Conclusions  This article provides help for the early diagnosis of Basan syndrome and helps to improve the diagnosis and differentiation level of clinicians.

     

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