应用全外显子测序诊断毛发、鼻、指(趾)综合征基因突变分析
Mutation Analysis of Tricho-Rhino-Phalangeal Syndrome by Whole-Exome Sequencing
苏日娜 1董文武 2姜阳阳 2郑利雄 2熊峰 2阳芳2
作者信息
- 1. 首都医科大学附属北京朝阳医院皮肤科,北京 100020
- 2. 深圳市人民医院(暨南大学第二临床医学院,南方科技大学第一附属医院)皮肤科,广东深圳 518020
- 折叠
摘要
先证者男,14岁,出生后即出现毛发稀疏,生长缓慢.体格检查:耳大,眼距宽,梨形鼻,鼻唇沟宽而长,上唇薄,牙列不齐.头发、眉毛、睫毛稀疏,腋毛稍少,阴毛正常,皮肤肥厚.双手指弯曲、指间关节肿胀,大拇指短粗.家族史:家系中3代10人,共有5名成员受累,分别为先证者及其外公、舅舅、母亲、妹妹.基因检测:全外显子测序显示先证者及其母亲在8号染色体上的TRPS1基因4号外显子上发生c.2066_2067del(p.Q689fs)杂合突变,其父亲未检测到突变.结合患者病史、临床表现及基因检测结果,诊断为毛发、鼻、指(趾)综合征.
Abstract
A 14-year-old boy presented with sparse hair growth and slow development since birth.Physical examination revealed large ears,wide-set eyes,a pear-shaped nose,wide and long philtrum,thin upper lip,irregular teeth,sparse hair,eyebrows,and eyelashes,and thickened skin.He also had curved fingers,swollen interphalangeal joints,and short,thick thumbs.The family history indicated that 5 out of 10 individuals across 3 generations were affected,including the proband,his maternal grandfather,uncle,mother,and sister.Genetic testing revealed a heterozygous mutation c.2066_2067del(p.Q689fs)in exon 4 of theTRPSS1 gene on chromosome 8 in the proband and his mother,while the father did not carry the mutation.Based on the medical history,clinical presentation,and genetic testing results,a diagnosis of Tricho-Rhino-Phalangeal Syndrome was made.
关键词
毛发、鼻、指(趾)综合征/基因突变/全外显子测序/TRPS1基因Key words
Tricho-Rhino-Phalangeal Syndrome/Gene mutation/Whole exome sequencing/TRPS1 gene引用本文复制引用
基金项目
国家自然科学基金项目(82203941)
深圳市科创委面上项目(JCYJ20220530151815035)
出版年
2024
NETL
NSTL
万方数据