1例携带双基因突变的48岁男性Joubert综合征患者  

A 48-year-old man patient with Joubert syndrome with double gene mutations

作　　者：王敏 李先红 赵强 王普清 WANG Min;LI Xianhong;ZHAO Qiang;WANG Puqing(Depatment of Neurology,Hubei Clinical Research Center of Parkinson’s Disease,Xiangyang Key Laboratory of Movement Disorders,Xiangyang No.1 Peoples Hospital,Affiliated Hospital of Hubei University of Medicine,Xiangyang,Hubei 441000,China)

机构地区：[1]湖北省帕金森病临床医学研究中心/运动障碍疾病襄阳市重点实验室/湖北医药学院附属襄阳市第一人民医院神经内科,湖北襄阳441000

出　　处：《中国优生与遗传杂志》2022年第10期1836-1839,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的 探讨Joubert综合征(JS)的临床表现及遗传学病因。方法 分析1例48岁男性Joubert综合征的临床表现、影像资料和全外基因测序(WES)。结果 男性患者,48岁,智力发育低下,全外显子测序示SUFU(NM_001178133:exon1:c.A169G:p.I57V)、TCTN2(NM_024809:exon10:c.C1150T:p.H384Y)双基因杂合错义突变。头颅磁共振成像(MRI)提示“磨牙征”(MTS),第四脑室蝙蝠翼征,蚓部发育不全。结论 通过临床资料及测序结果确诊了1例48岁男性JS患者,并发现了SUFU(NM_001178133:exon1:c.A169G:p.I57V)与TCTN2(NM_024809:exon10:c.C1150T:p.H384Y)双基因错义突变,给遗传咨询及产前基因诊断提供了参考依据。Objective To explore the clinical manifestation and genetic pathogeny of Joubert syndrome(JS). Methods The clinical manifestations, imaging data and whole exon sequencing of a 48-year-old man with Joubert syndrome were analyzed.Results Male patient, 48 years old, with low intellectual development, whole exon sequencing(WES) revealed a double-gene heterozygous mozygous missense mutation in SUFU(NM_001178133:exon1:c.A169G:p.I57V) and TCTN2(NM_024809:exon10:c.C1150T:p.H384Y). Cranial magnetic resonance(MRI) suggested “molar sign”, bat wing sign in the fourth ventricle,and hypoplasia of the vermis. Conclusion A 48-year-old man with JS was identified by clinical data and sequencing results,and a double missense mutation of SUFU(NM_001178133:exon1:c.A169G:p.I57V) and TCTN2(NM_ 024809:exon10:cC1150T:p.H384Y) was found, providing reference for genetic counseling and prenatal genetic diagnosis.

关 键 词：JOUBERT综合征 全外显子测序 SUFU基因 TCTN2基因 

分 类 号：R596.1[医药卫生—内科学]