Genetic Diagnosis and Hearing-speech Rehabilitation of CEBALID Syndrome

QU Chun-yan; SUN Yi; YE Hong; JIA Xin-yue; ZHAO Min; YIN Meng-ya; TAN Hui-min; MIAO Yan

doi:10.3969/j.issn.1672-4933.2023.02.010

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Genetic Diagnosis and Hearing-speech Rehabilitation of CEBALID Syndrome

Clinical Research | 更新时间：2023-05-22

- Genetic Diagnosis and Hearing-speech Rehabilitation of CEBALID Syndrome
- Chinese Scientific Journal of Hearing and Speech Rehabilitation Vol. 21, Issue 2, Pages: 154-157(2023)
- 作者机构：
  
  1.国家儿童医学中心/首都医科大学附属北京儿童医院保健中心北京 100045
  2.山东省康复研究中心济南 250109
  3.中国听力语言康复研究中心北京 100029
  4.锦州医科大学锦州 121001
- 作者简介：
- 基金信息：
- DOI：10.3969/j.issn.1672-4933.2023.02.010
  CLC：
- Published：15 March 2023，
  
  Received：05 July 2022，
- 稿件说明：
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曲春燕,孙毅,叶红等.CEBALID综合征的分子诊断及听力语言康复个案分析[J].中国听力语言康复科学杂志,2023,21(02):154-157.

QU Chun-yan,SUN Yi,YE Hong,et al.Genetic Diagnosis and Hearing-speech Rehabilitation of CEBALID Syndrome[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2023,21(02):154-157.
曲春燕,孙毅,叶红等.CEBALID综合征的分子诊断及听力语言康复个案分析[J].中国听力语言康复科学杂志,2023,21(02):154-157. DOI： 10.3969/j.issn.1672-4933.2023.02.010.

QU Chun-yan,SUN Yi,YE Hong,et al.Genetic Diagnosis and Hearing-speech Rehabilitation of CEBALID Syndrome[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2023,21(02):154-157. DOI： 10.3969/j.issn.1672-4933.2023.02.010.

摘要

目的

分析1例罕见CEBALID综合征患儿临床表现和基因诊断，总结其听力语言康复效果。

方法

针对一个综合征耳聋小家系，包括1名听障儿童及其正常父母，通过临床资料、耳聋基因二代测序分析和生物信息学方法，明确患儿致病基因和突变，评估助听前后听觉和言语能力。

结果

患儿有典型的CEBALID综合征颅面部表型，听力诊断为左耳重度、右耳中度感音神经性耳聋。二代测序发现患儿携带MN1基因

c.3846_3849del（p.V1283Tfs*36）

新发杂合突变，通过为期1年家庭为主的听力语言康复，听觉能力分级（CAP）由0级提高到4级，言语可懂度分级（SIR）仍然未达到1级。

结论

二代测序有助于确定CEBALID综合征耳聋临床诊断，明确其分子机制，听力语言康复训练有助于提高综合征患儿听觉言语能力。

Abstract

Objective

Analyze the clinical features and genetic mutations for a rare CEBALID syndrome and summarize the hearing-speech rehabilitation results.

Methods

The clinical data of a patient with CEBALID syndrome were collected and the whole exons of genome were next generation sequenced. Bioinformatics analysis was carried to determine the causative gene and mutations. Hearing and speech ability was evaluated and compared after one-year rehabilitation.

Results

The patient showed the typical craniofacial morphologic features of CEBALID syndrome with severe sensorineural hearing loss in left ear and moderate sensorineural hearing loss in right ear. De novo heterozygous mutation

c.3846_3849del(p.V1283Tfs*36)

was found in gene MN1. After one-year family-based rehabilitation

categories of auditory performance (CAP) improved from level 0 to level 4

but speech intelligibility rate (SIR) had still not reached level 1.

Conclusion

A de novo mutation of gene MN1 was found in a CEBALID syndrome family through next generation sequencing. Hearing and speech rehabilitation helps improving the hearing and speech ability.

关键词

MN1CEBALID综合征MCTT综合征综合征耳聋听力语言康复

Keywords

MN1CEBALID syndromeMCTT syndromeSyndromic hearing lossHearing and speech rehabilitation

references

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Miyake N, Takahashi H, Nakamura K, et al. Gain-of-function MN1 truncation variants cause a recognizable syndrome with craniofacial and brain abnormalities [J]. Am J Hum Genet, 2020, 106(1):13-25.

Zhao A, Shu D, Zhang D, et al. Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature review [J]. Int J Dev Neurosci, 2022, 82(1):96-103.

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Meester-Smoor MA, Vermeij M, van Helmond MJ, et al. Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton [J]. Mol Cell Biol, 2005, 25(10):4229-4236.

Said E, Cuschieri A, Vermeesch J, et al. Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH [J]. Am J Med Genet A, 2011, 155A (6):1390-1392.

Davidson TB, Sanchez-Lara PA, Randolph LM, et al. Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): A case report and review of the literature [J]. BMC Med Genet, 2012, 13(1):19-19.

Nagy E, Maquat LE. A rule for terminationcodon position within intron-containing genes: When nonsense affects RNA abundance [J]. Trends Biochem Sci, 1998, 23(6):198-199.

Lekanne Deprez RH, Riegman PH, Groen NA, et al. Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma [J]. Oncogene, 1995, 10(8):1521-1528.

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