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A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I.

作者信息

Yang Shu-Zhi, Hou Lei, Qi Xin, Wang Guo-Jian, Huang Sha-Sha, Zhang Shan-Shan, Huang Bang-Qing, Yang Ying, Li Bei-Cheng, Liu Shuo, Dai Pu, Su Yu

机构信息

Department of Otolaryngology, The 6th Medical Center of Chinese PLA General Hospital, No. 6, Fucheng Road, Haidian District, Beijing 100048, China.

National Clinical Research Center for Otorhinolaryngologic Disease, Chinese PLA General Hospital, No.6, Fucheng Road, Haidian District, Beijing 100048, China.

出版信息

World J Pediatr. 2023 Dec;19(12):1203-1207. doi: 10.1007/s12519-023-00746-2. Epub 2023 Sep 14.

DOI:10.1007/s12519-023-00746-2
PMID:37704892
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10590283/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68d0/10590283/a85e0afc42f5/12519_2023_746_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68d0/10590283/721791989271/12519_2023_746_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68d0/10590283/c31cfdb9f236/12519_2023_746_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68d0/10590283/a85e0afc42f5/12519_2023_746_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68d0/10590283/721791989271/12519_2023_746_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68d0/10590283/c31cfdb9f236/12519_2023_746_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/68d0/10590283/a85e0afc42f5/12519_2023_746_Fig3_HTML.jpg

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本文引用的文献

1
Waardenburg syndrome: Novel mutations in a large Brazilian sample.瓦登伯革氏综合征：巴西大样本中的新突变
Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31.
2
Haplosufficiency of PAX3 for melanoma development in Tyr: NRASQ61K; Cdkn2a-/- mice allows identification and sorting of melanoma cells using a Pax3GFP reporter allele.PAX3单倍剂量不足对Tyr:NRASQ61K;Cdkn2a-/-小鼠黑色素瘤发生的影响，使得利用Pax3GFP报告基因等位基因对黑色素瘤细胞进行鉴定和分选成为可能。
Melanoma Res. 2016 Feb;26(1):12-20. doi: 10.1097/CMR.0000000000000212.
3
PAX3 gene deletion detected by microarray analysis in a girl with hearing loss.
通过微阵列分析在一名听力损失女童中检测到PAX3基因缺失。
Mol Cytogenet. 2014 Apr 29;7:30. doi: 10.1186/1755-8166-7-30. eCollection 2014.
4
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.在 1 型和 2 型 Waardenburg 综合征中发现的新型突变谱：对分子遗传诊断的影响。
BMJ Open. 2013 Mar 18;3(3):e001917. doi: 10.1136/bmjopen-2012-001917.
5
Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I.用于诊断Ⅰ型瓦登伯革氏综合征的PAX3基因分析。
Acta Otolaryngol. 2013 Apr;133(4):345-51. doi: 10.3109/00016489.2012.744470. Epub 2012 Nov 20.
6
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.中国1型瓦登伯革氏综合征患者的PAX3突变与临床特征
Mol Vis. 2010 Jun 22;16:1146-53.
7
Review and update of mutations causing Waardenburg syndrome.导致瓦登伯格综合征的基因突变的回顾与更新。
Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211.
8
Structural variation in the human genome and its role in disease.人类基因组中的结构变异及其在疾病中的作用。
Annu Rev Med. 2010;61:437-55. doi: 10.1146/annurev-med-100708-204735.
9
The value of MLPA in Waardenburg syndrome.多重连接探针扩增技术（MLPA）在瓦登伯革氏综合征中的价值。
Genet Test. 2007 Summer;11(2):179-82. doi: 10.1089/gte.2006.0531.
10
Waardenburg syndrome.瓦登伯革氏综合征
J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656.