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-Reference-Cited by-同舟云学术

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

Published:2021-11-04 Issue:1 Volume:82 Page:96-103
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Intl J of Devlp Neuroscience

Author:

Zhao Arman¹^ORCID,Shu Dandan²,Zhang Daxue²,Yang Bin¹,Hong Liyi¹,Wang Andi¹,Yao Ruen³,Wang Jian³,Lv Haitao⁴,Wang Jian⁵,Shen Yiping³⁶⁷⁸,Wang Hongying¹⁹,Gu Qin²

Affiliation:

1. Department of Clinical Laboratory Children's Hospital of Soochow University Suzhou China

2. Department of Rehabilitation Medicine Children's Hospital of Soochow University Suzhou China

3. Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai China

4. Department of Cardiology Children's Hospital of Soochow University Suzhou China

5. Department of Pediatric Surgery Children's Hospital of Soochow University Suzhou China

6. Department of Genetics and Metabolism Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning China

7. Division of Genetics and Genomics Boston Children's Hospital Boston MA USA

8. Department of Neurology Harvard Medical School Boston MA USA

9. Department of Clinical Laboratory Children's Hospital of Wujiang District, Suzhou Suzhou China

Funder

Suzhou Municipal Science and Technology Bureau

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jdn.10154

Reference21 articles.

1. Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving theMN1gene

2. Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

3. Prevalence and architecture of de novo mutations in developmental disorders

4. De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

5. High meningioma 1 (MN1) expression as a predictor for poor outcome in acute myeloid leukemia with normal cytogenetics

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1. Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome;CHIN J DENT RES;2024

2. Whole Exome Sequencing Identified two Novel Truncation Mutations in theCTNNB1Gene Associated with Neurodevelopmental Disorder, Language Dysfunction, and Microcephaly in Chinese Children;Child Neurology Open;2023-01

3. Diagnosis and treatment of MN1 C‐terminal truncation syndrome;Molecular Genetics & Genomic Medicine;2022-09-20