SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II

被引：3

作者：

Yamazaki, Hiroshi ^{[1
]}

Naito, Yasushi ^{[2
]}

Moroto, Saburo ^{[2
]}

Tamaya, Rinko ^{[2
]}

Yamazaki, Tomoko ^{[2
]}

Fujiwara, Keizo ^{[2
]}

Ito, Juichi ^{[1
]}

机构：

[1] Kyoto Univ, Dept Otolaryngol Head & Neck Surg, Grad Sch Med, Kyoto 6068507, Japan

[2] Kobe City Med Ctr Gen Hosp, Dept Otolaryngol, Kobe, Hyogo, Japan

来源：

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2014年 / 78卷 / 12期

关键词：

SLC26A4; Homozygous mutation; Cochlear implant; Inner ear malformation; Incomplete partition; Enlarged vestibular aqueduct; PENDRED-SYNDROME; PDS GENE; DEAFNESS; DFNB4; FAMILIES; SPECTRUM; JAPANESE;

D O I：

10.1016/j.ijporl.2014.10.038

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Mutations of SLC26A4 are associated with incomplete partition type H (IP-II) and isolated enlargement of the vestibular aqueduct (EVA). We experienced a congenitally deaf 6-year-old boy with a rare p.Thr410Met homozygous mutation in SLC26A4 who underwent bilateral cochlear implantation. He had bilateral inner ear malformation, in which the dilated vestibule and EVA were identical to those in IP-II, but the cochlea lacking a bony modiolus resembled that in incomplete partition type I. These results suggest that homozygous mutations in SLC26A4 are always associated with EVA, while the severity of cochlear malformation may vary depending on the type of SLC26A4 mutation. (C) 2014 Elsevier Ireland Ltd. All rights reserved.

引用

页码：2322 / 2326

页数：5

共 36 条

[1] SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations [J].

Albert, Sebastien ;

Blons, Helene ;

Jonard, Laurence ;

Feldmann, Delphine ;

Chauvin, Pierre ;

Loundon, Nathalie ;

Sergent-Allaoui, Annie ;

Houang, Muriel ;

Joannard, Alain ;

Schmerber, Sebastien ;

Delobel, Bruno ;

Leman, Jacques ;

Journel, Hubert ;

Catros, Helene ;

Dollfus, Helene ;

Eliot, Marie-Madeleine ;

David, Albert ;

Calais, Catherine ;

Drouin-Garraud, Valerie ;

Obstoy, Marie-Francoise ;

Tran Ba Huy, Patrice ;

Lacombe, Didier ;

Duriez, Francoise ;

Francannet, Christine ;

Bitoun, Pierre ;

Petit, Christine ;

Garabedian, Erea-Noel ;

Couderc, Remy ;

Marlin, Sandrine ;

Denoyelle, Francoise .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (06) :773-779

[2] Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings [J].

Arellano, B ;

Pera, A ;

Ramírez-Camacho, R ;

Villamar, M ;

Trinidad, A ;

Garcia, JR ;

Moreno, F ;

Hernández-Chico, C .

CLINICAL GENETICS, 2005, 67 (05) :438-440

[3] Screening of SLC26A4 (PDS) gene in Pendred's syndrome:: a large spectrum of mutations in France and phenotypic heterogeneity [J].

Blons, H ;

Feldmann, D ;

Duval, V ;

Messaz, O ;

Denoyelle, F ;

Loundon, N ;

Sergout-Allaoui, A ;

Houang, M ;

Duriez, F ;

Lacombe, D ;

Delobel, B ;

Leman, J ;

Catros, H ;

Journel, H ;

Drouin-Garraud, V ;

Obstoy, MF ;

Toutain, A ;

Oden, S ;

Toublanc, JE ;

Couderc, R ;

Petit, C ;

Garabédian, EN ;

Marlin, S .

CLINICAL GENETICS, 2004, 66 (04) :333-340

[4] Pendred syndrome, DFNB4, and PDS/SCL26A4 identification of eight novel mutations and possible genotype-phenotype correlations [J].

Campbell, C ;

Cucci, RA ;

Prasad, S ;

Green, GE ;

Edeal, JB ;

Galer, CE ;

Karniski, LP ;

Sheffield, VC ;

Smith, RJH .

HUMAN MUTATION, 2001, 17 (05) :403-411

[5] Molecular and Functional Characterization of Human Pendrin and its Allelic Variants [J].

Dossena, Silvia ;

Nofziger, Charity ;

Tamma, Grazia ;

Bernardinelli, Emanuele ;

Vanoni, Simone ;

Nowak, Christoph ;

Grabmayer, Elisabeth ;

Koessler, Sonja ;

Stephan, Susanne ;

Patsch, Wolfgang ;

Paulmichl, Markus .

CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, 2011, 28 (03) :451-466

[6] Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) [J].

Everett, LA ;

Glaser, B ;

Beck, JC ;

Idol, JR ;

Buchs, A ;

Heyman, M ;

Adawi, F ;

Hazani, E ;

Nassir, E ;

Baxevanis, AD ;

Sheffield, VC ;

Green, ED .

NATURE GENETICS, 1997, 17 (04) :411-422

[7] Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear [J].

Everett, LA ;

Morsli, H ;

Wu, DK ;

Green, ED .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (17) :9727-9732

[8] SLC26A4 mutations are associated with a specific inner ear malformation [J].

Fitoz, Suat ;

Sennaroglu, Levent ;

Incesulu, Armagan ;

Cengiz, Filiz Basak ;

Koc, Yasemin ;

Tekin, Mustafa .

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2007, 71 (03) :479-486

[9] Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct [J].

Huang, Shasha ;

Han, Dongyi ;

Yuan, Yongyi ;

Wang, Guojian ;

Kang, Dongyang ;

Zhang, Xin ;

Yan, Xiaofei ;

Meng, Xiaoxiao ;

Dong, Min ;

Dai, Pu .

JOURNAL OF TRANSLATIONAL MEDICINE, 2011, 9

[10] SLC26A4 Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct [J].

Ito, Taku ;

Choi, Byung Yoon ;

King, Kelly A. ;

Zalewski, Christopher K. ;

Muskett, Julie ;

Chattaraj, Parna ;

Shawker, Thomas ;

Reynolds, James C. ;

Butman, John A. ;

Brewer, Carmen C. ;

Wangemann, Philine ;

Alper, Seth L. ;

Griffith, Andrew J. .

CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, 2011, 28 (03) :545-552

← 1 2 3 4 →