作者更正：CIB2钙和整合素结合蛋白的改变导致1J型Usher综合征和非综合征性耳聋DFNB48。 - Suppr

Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

作者信息

Riazuddin Saima, Belyantseva Inna A, Giese Arnaud P J, Lee Kwanghyuk, Indzhykulian Artur A, Nandamuri Sri Pratima, Yousaf Rizwan, Sinha Ghanshyam P, Lee Sue, Terrell David, Hegde Rashmi S, Ali Rana A, Anwar Saima, Andrade-Elizondo Paula B, Sirmaci Asli, Parise Leslie V, Basit Sulman, Wali Abdul, Ayub Muhammad, Ansar Muhammad, Ahmad Wasim, Khan Shaheen N, Akram Javed, Tekin Mustafa, Riazuddin Sheikh, Cook Tiffany, Buschbeck Elke K, Frolenkov Gregory I, Leal Suzanne M, Friedman Thomas B, Ahmed Zubair M

机构信息

Division of Pediatric Otolaryngology/Head & Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

出版信息

Nat Genet. 2025 Aug 26. doi: 10.1038/s41588-025-02332-w.

DOI:10.1038/s41588-025-02332-w

PMID:40858907

Abstract

摘要

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Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.作者更正：CIB2钙和整合素结合蛋白的改变导致1J型Usher综合征和非综合征性耳聋DFNB48。

Nat Genet. 2025 Aug 26. doi: 10.1038/s41588-025-02332-w.

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.CIB2 钙和整合素结合蛋白的改变导致 1J 型 Usher 综合征和非综合征性耳聋 DFNB48。

Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30.

Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48.

Clin Genet. 2013 Apr;83(4):317-8. doi: 10.1111/cge.12100.

Preferential Binding of Mg Over Ca to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J.镁相对于钙与CIB2的优先结合引发了1J型Usher综合征中受损的变构转换。

Front Mol Neurosci. 2018 Aug 17;11:274. doi: 10.3389/fnmol.2018.00274. eCollection 2018.

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.CIB2，在孤立性耳聋中缺陷，是听觉毛细胞机械转导和存活的关键。

EMBO Mol Med. 2017 Dec;9(12):1711-1731. doi: 10.15252/emmm.201708087.

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.与非综合征性耳聋相关的新型和复发性CIB2变体不会影响毛细胞中的钙缓冲和定位。

Eur J Hum Genet. 2016 Apr;24(4):542-9. doi: 10.1038/ejhg.2015.157. Epub 2015 Jul 15.

Advances in genetic hearing loss: CIB2 gene.遗传性听力损失的进展：CIB2基因

Eur Arch Otorhinolaryngol. 2017 Apr;274(4):1791-1795. doi: 10.1007/s00405-016-4330-9. Epub 2016 Oct 22.

Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice.CIB2缺失导致小鼠严重听力丧失并消除机械电转导。

Front Mol Neurosci. 2017 Dec 4;10:401. doi: 10.3389/fnmol.2017.00401. eCollection 2017.

Variants in CIB2 cause DFNB48 and not USH1J.CIB2 变异导致 DFNB48，但不导致 USH1J。

Clin Genet. 2018 Apr;93(4):812-821. doi: 10.1111/cge.13170. Epub 2018 Feb 12.

Calcium- and Integrin-Binding Protein 2 (CIB2) in Physiology and Disease: Bright and Dark Sides.钙与整合素结合蛋白2（CIB2）在生理与疾病中的作用：光明与黑暗面

Int J Mol Sci. 2022 Mar 24;23(7):3552. doi: 10.3390/ijms23073552.

本文引用的文献

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.过去三十年巴基斯坦常染色体隐性非综合征性听力损失基因。

J Cell Mol Med. 2024 Apr;28(8):e18119. doi: 10.1111/jcmm.18119.

Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins.尤塞氏综合征蛋白ADGRV1（USH2C）和CIB2（USH1J）相互作用，并共享一个包含TRiC/CCT-BBS伴侣蛋白的共同相互作用组。

Front Cell Dev Biol. 2023 Jun 22;11:1199069. doi: 10.3389/fcell.2023.1199069. eCollection 2023.

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.遗传性耳聋-视网膜色素变性综合征的遗传和表型图谱：从疾病机制到新分类

Hum Genet. 2022 Apr;141(3-4):709-735. doi: 10.1007/s00439-022-02448-7. Epub 2022 Mar 30.

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.尼日利亚约鲁巴人群儿童听力损失的基因组分析。

Eur J Hum Genet. 2022 Jan;30(1):42-52. doi: 10.1038/s41431-021-00984-w. Epub 2021 Nov 26.

CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.CIB2 调控 mTORC1 信号通路，对于自噬和视觉功能至关重要。

Nat Commun. 2021 Jun 23;12(1):3906. doi: 10.1038/s41467-021-24056-1.

Genetic LAMP2 deficiency accelerates the age-associated formation of basal laminar deposits in the retina.遗传 LAMP2 缺乏加速视网膜基底膜沉积物与年龄相关的形成。

Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23724-23734. doi: 10.1073/pnas.1906643116. Epub 2019 Nov 7.

Increased incidence of age-related macular degeneration in sensorineural hearing loss: A population-based cohort study.年龄相关性黄斑变性在感音神经性听力损失中的发病率增加：一项基于人群的队列研究。

PLoS One. 2019 Oct 23;14(10):e0222919. doi: 10.1371/journal.pone.0222919. eCollection 2019.

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.高通量测序在 Usher 综合征的分子诊断中的应用揭示了 42 种新的突变，并证实了 CEP250 是类似 Usher 疾病的致病基因。

Sci Rep. 2018 Nov 20;8(1):17113. doi: 10.1038/s41598-018-35085-0.

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.巴基斯坦近亲家族遗传性听力损失的全球遗传学研究。

Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18.

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province.阿尔及利亚加尔达亚省先天性听力障碍的遗传异质性。

Int J Pediatr Otorhinolaryngol. 2018 Sep;112:1-5. doi: 10.1016/j.ijporl.2018.06.012. Epub 2018 Jun 12.

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Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

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