Johanson-Blizzard综合征的基因诊断及听力语言康复

Genetic Diagnosis and Hearing-speech Rehabilitation of Johanson-Blizzard Syndrome

目的探讨Johanson-Blizzard综合征患者的基因诊断及听力语言康复效果。方法分析一个综合征型聋小家系,包括听力障碍儿童及其听力正常父母的临床资料、耳聋基因二代测序分析和生物信息学方法,确定致病基因和突变;在听力语言康复训练1年前后进行语言能力评估。结果该患儿有典型的Johanson-Blizzard综合征临床表现,包括鼻翼发育不全、胰腺外分泌功能不全、先天性聋及其表现,二代测序结果提示患儿存在UBR1基因复合杂合突变c.3055C>T(p.Arg1019*)和EX47 Del,听力语言康复训练一年后其语言年龄从2岁提高到3岁。结论二代测序可明确Johanson-Blizzard综合征型聋的分子机制,EX47 Del突变为首次发现,本研究结果丰富了UBR1基因突变谱;听力语言康复有助于提高该综合征患儿语言能力。

Objective To study the clinical features and genetic diagnosis of Johanson-Blizzard syndrome and summarize the hearing-speech rehabilitation results.Methods The clinical data of a patient with Johanson-Blizzard syndrome were collected and second-generation segsuencing analysis of deafness genes was conducted.Bioinformatic analysis was carried to determine the causative gene and mutations.Language level was evaluated and compared after one-year of speech therapy.Results The patient showed typical clinical features of Johanson-Blizzard syndrome,including nasal alar hypoplasia,exocrine pancreatic insufficiency,congenital deafness,et al.Compound heterozygous mutation c.3055C>T(p.Arg1019*)/EX47 Del was found in gene UBR1.Speech therapy improved the language level from 2 to 3 years old.Conclusion A novel EX47 Del mutation of gene UBR1 was found in a Johanson-Blizzard syndrome family through next generation sequencing,which enriched mutation spectrum.Hearing-speech rehabilitation is an important means for improving the language ability.