Novel Splice-Site Mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 Gene Causing Pendred Syndrome in a Consanguineous Portuguese Family

被引：3
|
作者：
Simoes-Teixeira, Helena [1 ,2 ]
Matos, Tiago D. [1 ]
Marques, Marta Canas [3 ]
Dias, Oscar [3 ]
Andrea, Mario [3 ]
Barreiros, Eduardo [4 ]
Barreiros, Luis [4 ]
Moreno, Felipe [2 ,5 ]
Fialho, Graca [1 ]
Caria, Helena [1 ,6 ]
del Castillo, Ignacio [2 ,5 ]
机构：
[1] Univ Lisbon, Fac Sci, Ctr Biodivers Funct & Integrat Genom BioFIG, P-1699 Lisbon, Portugal
[2] Hosp Univ Ramon y Cajal, IRYCIS, Unidad Genet Mol, Madrid, Spain
[3] Hosp Santa Maria, Ctr Hosp Lisboa Norte, EPE, ORL Serv, Lisbon, Portugal
[4] Hosp Santa Maria, Ctr Hosp Lisboa Norte, EPE, Dept Endocrinol, Lisbon, Portugal
[5] Ctr Invest Biomed Red Enfermedade Raras CIBERER, Madrid, Spain
[6] Polytech Inst, Higher Sch Hlth, Setubal, Portugal
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 04期
关键词：
SULFATE TRANSPORTER; HEARING-LOSS; PDS; PROVIDES; DEAFNESS; PROTEIN; IODIDE; DOMAIN; DFNB4;
D O I：
10.1002/ajmg.a.33740
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：924 / 927
页数：4
相关论文
共 19 条
  • [1] Novel heterozygous mutation c.662_663insG compound with IVS7-2A > G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome
    Chen, Kaitian
    Zhou, Wei
    Zong, Ling
    Liu, Min
    Du, Jintao
    Jiang, Hongyan
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2012, 76 (11) : 1633 - 1636
  • [2] Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene
    Massa, G
    Jaenen, N
    de Varebeke, SJ
    Peeters, N
    Wuyts, W
    EUROPEAN JOURNAL OF PEDIATRICS, 2003, 162 (10) : 674 - 677
  • [3] Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene
    Guy Massa
    Nele Jaenen
    Sebastien Janssens de Varebeke
    Nils Peeters
    Wim Wuyts
    European Journal of Pediatrics, 2003, 162 : 674 - 677
  • [4] Pathogenic substitution of IVS15+5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
    Ganaha, Akira
    Kaname, Tadashi
    Yanagi, Kumiko
    Naritomi, Kenji
    Tono, Tetsuya
    Usami, Shin-ichi
    Suzuki, Mikio
    BMC MEDICAL GENETICS, 2013, 14
  • [5] Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss
    Teek, Rita
    Oitmaa, Eneli
    Kruustuek, Katrin
    Zordania, Riina
    Joost, Kairit
    Raukas, Elve
    Tonisson, Neema
    Gardner, Phyllis
    Schrijver, Iris
    Kull, Mart
    Ounap, Katrin
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2009, 73 (01) : 103 - 107
  • [6] Establishment of a Knock-In Mouse Model with the SLC26A4 c.919-2A>G Mutation and Characterization of Its Pathology
    Lu, Ying-Chang
    Wu, Chen-Chi
    Shen, Wen-Sheng
    Yang, Ting-Hua
    Yeh, Te-Huei
    Chen, Pei-Jer
    Yu, I-Shing
    Lin, Shu-Wha
    Wong, Jau-Min
    Chang, Qing
    Lin, Xi
    Hsu, Chuan-Jen
    PLOS ONE, 2011, 6 (07):
  • [7] Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging
    Goncalves, A. C.
    Santos, R.
    O'Neill, A.
    Escada, P.
    Fialho, G.
    Caria, H.
    ACTA OTORHINOLARYNGOLOGICA ITALICA, 2016, 36 (03) : 233 - 238
  • [8] SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss
    Dai, Pu
    Li, Qi
    Huang, Deliang
    Yuan, Yongyi
    Kang, Dongyang
    Miller, David T.
    Shao, Hong
    Zhu, Qingwen
    He, Jia
    Yu, Fei
    Liu, Xin
    Han, Bing
    Yuan, Huijun
    Platt, Orah S.
    Han, Dongyi
    Wu, Bai-Lin
    GENETICS IN MEDICINE, 2008, 10 (08) : 586 - 592
  • [9] Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome
    Ben Said, Mariem
    Dhouib, Houria
    BenZina, Zeineb
    Ghorbel, AbdelMoneem
    Moreno, Felipe
    Masmoudi, Saber
    Ayadi, Hammadi
    Hmani-Aifa, Mounira
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2012, 76 (06) : 832 - 836
  • [10] Splice receptor-site mutation c.697-2A>G of the COL1A1 gene in a Chinese family with osteogenesis imperfecta
    Zhai, Naixiang
    Lu, Yanqin
    Wang, Yanzhou
    Zhang, Shie
    Peng, Chuanming
    Zhang, Shanshan
    Li, Tianyou
    Chen, Mei
    Liu, Junlong
    Fang, Fengling
    Ren, Xiuzhi
    Han, Jinxiang
    INTRACTABLE & RARE DISEASES RESEARCH, 2019, 8 (02) : 150 - 153
12