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

Zhouliang LIU; Chao YANG; Huijun WANG; Zhimiao LIN

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

VernacularTitle:Basan综合征的临床特征、基因分析及文献回顾
Author: Zhouliang LIU ¹ ; Chao YANG ¹ ; Huijun WANG ¹ ; Zhimiao LIN ¹
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1. Dermatology Hospital, Southern Medical University, Guangzhou 510091, China.
Publication Type:Journal Article
Keywords: Basan syndrome; SMARCAD1 gene; adermatoglyphia; splicing mutation
From: JOURNAL OF RARE DISEASES 2023;2(2):178-185
CountryChina
Language:Chinese
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.