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一名患有脉络膜缺损性小眼症的伊朗患者TENM3基因的新型突变。

Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.

作者信息

Gholami Yarahmadi Sepideh, Sarlaki Fatemeh, Morovvati Saeid

机构信息

School of Advanced Sciences and Technology Islamic Azad University-Tehran Medical Sciences Tehran Iran.

Shahid Beheshti University of Medical Sciences Tehran Iran.

出版信息

Clin Case Rep. 2022 Mar 8;10(3):e05532. doi: 10.1002/ccr3.5532. eCollection 2022 Mar.

DOI:10.1002/ccr3.5532
PMID:35280100
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8905136/
Abstract

This investigation revealed a homozygous c.5069-1G>C variation in TENM3 gene although has not been reported for its pathogenicity and can be considered as a novel mutation. The present finding can be used for genetic diagnosis and detection of carriers in the family and other patients with similar disease manifestations.

摘要

这项研究揭示了TENM3基因中存在一个纯合的c.5069-1G>C变异，尽管其致病性尚未见报道，可被视为一种新的突变。目前的发现可用于该家族以及其他有类似疾病表现患者的基因诊断和携带者检测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76b3/8905136/eb6d68d28292/CCR3-10-e05532-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76b3/8905136/07a4fdbae7b4/CCR3-10-e05532-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76b3/8905136/0e7a0a76cd48/CCR3-10-e05532-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76b3/8905136/eb6d68d28292/CCR3-10-e05532-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76b3/8905136/07a4fdbae7b4/CCR3-10-e05532-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76b3/8905136/0e7a0a76cd48/CCR3-10-e05532-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76b3/8905136/eb6d68d28292/CCR3-10-e05532-g004.jpg

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引用本文的文献

1
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本文引用的文献

1
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.同一家系人群中小眼、无眼和眼眶距过宽（MAC）患者的外显子组测序。
Clin Genet. 2020 Nov;98(5):499-506. doi: 10.1111/cge.13830. Epub 2020 Sep 3.
2
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.先天性无眼症和小眼球症的遗传学。第 1 部分：非综合征性先天性无眼症/小眼球症。
Hum Genet. 2019 Sep;138(8-9):799-830. doi: 10.1007/s00439-019-01977-y. Epub 2019 Feb 14.
3
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.
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Am J Med Genet A. 2018 Dec;176(12):2930-2933. doi: 10.1002/ajmg.a.40658. Epub 2018 Dec 4.
4
Novel mutation in Teneurin 3 found to co-segregate in all affecteds in a multi-generation family with developmental dysplasia of the hip.在一个有多代髋关节发育不良患者的家族中，发现 Teneurin 3 的新突变与所有受影响者共分离。
J Orthop Res. 2019 Jan;37(1):171-180. doi: 10.1002/jor.24148. Epub 2018 Oct 25.
5
Nanophthalmos: A Review of the Clinical Spectrum and Genetics.小眼球症：临床谱系与遗传学综述
J Ophthalmol. 2018 May 9;2018:2735465. doi: 10.1155/2018/2735465. eCollection 2018.
6
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Eur J Med Genet. 2019 Jan;62(1):61-64. doi: 10.1016/j.ejmg.2018.05.004. Epub 2018 May 9.
7
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.基于芯片的全外显子组测序在表现出复杂孟德尔遗传模式的小眼症和无眼症患者中鉴定出新型突变。
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8
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Ophthalmic Epidemiol. 2016 Oct;23(5):324-30. doi: 10.1080/09286586.2016.1213859. Epub 2016 Aug 23.
9
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Am J Med Genet A. 2016 Jul;170(7):1895-8. doi: 10.1002/ajmg.a.37667. Epub 2016 Apr 22.
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