Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes

被引:1
|
作者
Alqahtani, Mohammad Awwad [1 ]
Al-Qahtani, Saleh M. M. [2 ]
Al-Falki, Yahya H. H. [3 ]
Alharby, Essa [4 ]
Albulym, Obaid Mohammed [5 ]
Almontashiri, Naif A. M. [4 ]
机构
[1] Specialized Med Complex, Abha, Saudi Arabia
[2] King Khalid Univ, Coll Med, Dept Child Hlth, Abha, Saudi Arabia
[3] King Khalid Univ, Coll Med, Ophthalmol Dept, Abha, Saudi Arabia
[4] Taibah Univ, Ctr Genet & Inherited Dis, Al Madinah Al Munawwarah, Saudi Arabia
[5] King Khalid Univ, Fac Sci, Dept Biol, Abha, Saudi Arabia
关键词
homozygous; loss-of-function; neonatal diabetes; recessive; ZNF808; GENOME-WIDE ASSOCIATION;
D O I
10.1111/cge.14389
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:497 / 498
页数:2
相关论文
共 50 条
  • [21] A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss
    Yariz, K. O.
    Walsh, T.
    Akay, H.
    Duman, D.
    Akkaynak, A. C.
    King, M-C
    Tekin, M.
    CLINICAL GENETICS, 2012, 81 (03) : 289 - 293
  • [22] Identification of rare loss-of-function variants in FAM3B associated with non-syndromic orofacial clefts
    Zhao, Huaxiang
    He, Qing
    Wu, Xiantao
    Liang, Xuqin
    Jiao, Yuhua
    Zhang, Yue
    Bao, Shanying
    Xu, Linping
    Hou, Yuxia
    Zhu, Xuechen
    Ding, Yi
    GENOMICS, 2023, 115 (03)
  • [23] A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing Loss
    Kazemi, Negar
    Rezvandeh, Raziye Rezvani
    Ashrafi, Farzane Zare
    Shokouhian, Ebrahim
    Edizadeh, Masoud
    Booth, Kevin T. A.
    Kahrizi, Kimia
    Najmabadi, Hossein
    Mohseni, Marzieh
    CLINICAL GENETICS, 2025, 107 (02) : 214 - 218
  • [24] Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families
    Zhang, Dejun
    Wu, Jie
    Yuan, Yongyi
    Li, Xiaohong
    Gao, Xue
    Kang, Dongyang
    Zhang, Xin
    Huang, Sha-sha
    Dai, Pu
    HELIYON, 2024, 10 (06)
  • [25] A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family
    Zeng Beiping
    Xu Hongen
    Tian Yongan
    Lin Qianyu
    Feng Haifeng
    Zhang Zhifeng
    Li Siqi
    Tang Wenxue
    中华医学杂志英文版, 2022, 135 (21)
  • [26] A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family
    Zeng, Beiping
    Xu, Hongen
    Tian, Yongan
    Lin, Qianyu
    Feng, Haifeng
    Zhang, Zhifeng
    Li, Siqi
    Tang, Wenxue
    CHINESE MEDICAL JOURNAL, 2022, 135 (21) : 2631 - 2633
  • [27] A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family
    Sarmadi, Akram
    Nasrniya, Samane
    Farsani, Maryam Soleimani
    Narrei, Sina
    Nouri, Zahra
    Sepehrnejad, Mahsa
    Nilforoush, Mohammad Hussein
    Abtahi, Hamidreza
    Tabatabaiefar, Mohammad Amin
    BMC MEDICAL GENETICS, 2020, 21 (01)
  • [28] Inherited Connexin 26 mutations associated with non-syndromic hearing loss in the Israeli population.
    Avraham, KB
    Sobe, T
    Vreugde, S
    Shahin, H
    Kanaan, M
    Yaron, Y
    Orr-Urtreger, A
    Frydman, M
    Shohat, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A211 - A211
  • [29] Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss
    Moctar, Ely Cheikh Mohamed
    Riahi, Zied
    El Hachmi, Hala
    Veten, Fatimetou
    Meiloud, Ghlana
    Bonnet, Christine
    Abdelhak, Sonia
    Errami, Mohammed
    Houmeida, Ahmed
    EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY, 2016, 273 (11) : 3693 - 3698
  • [30] Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population
    Broojeni, Jalal Vallian
    Kazemi, Arezu
    Rezaei, Halimeh
    Vallian, Sadeq
    PLOS ONE, 2023, 18 (08):