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

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.