A novel <i>CEP57</i> variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth-Reference-Cited by-同舟云学术

A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth

Published:2022-04-17 Issue:6 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Feng Biyun¹²^ORCID,Chang Guoying¹²,Zhang Qianwen¹²^ORCID,Li Xin¹²,Tang Yijun¹²,Gu Shili¹²,Wang Yirou¹²,Wang Jian³^ORCID,Wang Xiumin¹²

Affiliation:

1. Department of Endocrinology and Metabolism Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University Shanghai China

2. Center for Brain Science Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University Shanghai China

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

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1951

Reference14 articles.

1. Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression

2. Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing

3. Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome

4. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome

5. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

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1. Mosaic variegated aneuploidy in development, ageing and cancer;Nature Reviews Genetics;2024-08-21

2. BUB1B monoallelic germline variants contribute to prostate cancer predisposition by triggering chromosomal instability;Journal of Biomedical Science;2024-07-16

3. Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum;Clinical Genetics;2023-01-23