A Novel Homozygous Nonsense Mutation in the PVRL4 Gene and Expansion of Clinical Spectrum of EDSS1

被引：17
|
作者：
Raza, Syed Irfan [1 ,2 ]
Dar, Rashid Nasser [3 ]
Shah, Anwar Ali [4 ]
Ahmad, Wasim [1 ]
机构：
[1] Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan
[2] NUST, Army Med Coll, Islamabad, Pakistan
[3] Combined Mil Hosp, Rawalpindi, Pakistan
[4] Shifa Int Hosp, Islamabad, Pakistan
来源：
ANNALS OF HUMAN GENETICS | 2015年 / 79卷 / 02期
关键词：
Ectodermal dysplasia syndactyly syndrome; expansion of clinical features; PVRL4; gene; nonsense mutation; DYSPLASIA-SYNDACTYLY SYNDROME; ECTODERMAL-DYSPLASIA; CELL-ADHESION; NECTIN-4; JUNCTIONS; AFADIN;
D O I：
10.1111/ahg.12094
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Ectodermal dysplasias (EDs) belong to a group of genetic diseases which result from alterations in ectoderm-derived appendages including hair, nail, teeth and sweat glands. Ectodermal dysplasia syndactyly syndrome (EDSS1) is one of the rare forms of ED caused by mutations in nectin-4, encoded by the PVRL4 gene. The present study described clinical investigation of the EDSS1 identified in a large consanguineous family. Furthermore, DNA sequence analysis revealed a novel homozygous nonsense mutation (181C>T, p.Asp61*) in the PVRL4 gene.
引用
收藏
页码：92 / 98
页数：7
相关论文
共 50 条
  • [41] Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene
    Lagueny, A
    Latour, P
    Vital, G
    Le Masson, G
    Rouanet, M
    Ferrer, X
    Vital, C
    Vandenberghe, A
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2001, 70 (02) : 232 - 235
  • [42] A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis
    Fu, Jiewen
    Ma, Lu
    Cheng, Jingliang
    Yang, Lisha
    Wei, Chunli
    Fu, Shangyi
    Lv, Hongbin
    Chen, Rui
    Fu, Junjiang
    JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2018, 22 (11) : 5662 - 5669
  • [43] A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus
    Guo, Dewei
    Shi, Yuting
    Jian, Wenyan
    Fu, Yimei
    Yang, Hui
    Guo, Manhui
    Yong, Wenjing
    Chen, Gang
    Deng, Huan
    Qin, Yan
    Liao, Weihua
    Yao, Ruojin
    JOURNAL OF GENE MEDICINE, 2020, 22 (07)
  • [44] Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2
    Letard, Pascaline
    Schepers, Dorien
    Albuisson, Juliette
    Bruneval, Patrick
    Spaggiari, Emmanuel
    Van de Beek, Gerarda
    Khung-Savatovsky, Suonavy
    Belarbi, Nadia
    Capri, Yline
    Delezoide, Anne-Lise
    Loeys, Bart
    Guimiot, Fabien
    MOLECULAR SYNDROMOLOGY, 2018, 9 (04) : 190 - 196
  • [45] A novel nonsense mutation of the KAL1 gene (p. Trp204*) in Kallmann syndrome
    El Husny, Antonette Souto
    Raiol-Moraes, Milene
    Fernandes-Caldato, Milena Coelho
    Ribeiro-dos-Santos, Andrea
    APPLICATION OF CLINICAL GENETICS, 2014, 7 : 177 - 182
  • [46] A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome
    Yan Wang
    Xiao-Juan Yin
    Tao Han
    Wei Peng
    Hong-Lin Wu
    Xin Liu
    Zhi-Chun Feng
    Molecular Genetics and Genomics, 2014, 289 : 1237 - 1240
  • [47] A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome
    Wang, Yan
    Yin, Xiao-Juan
    Han, Tao
    Peng, Wei
    Wu, Hong-Lin
    Liu, Xin
    Feng, Zhi-Chun
    MOLECULAR GENETICS AND GENOMICS, 2014, 289 (06) : 1237 - 1240
  • [48] A novel homozygous mutation of the EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis
    Aochi, S.
    Nakanishi, G.
    Suzuki, N.
    Setsu, N.
    Suzuki, D.
    Aya, K.
    Iwatsuki, K.
    BRITISH JOURNAL OF DERMATOLOGY, 2007, 157 (06) : 1265 - 1266
  • [49] A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
    Jameel, Muhammad
    Klar, Joakim
    Tariq, Muhammad
    Moawia, Abubakar
    Malik, Naveed Altaf
    Waseem, Syeda Seema
    Abdullah, Uzma
    Khan, Tahir Naeem
    Raininko, Raili
    Baig, Shahid Mahmood
    Dahl, Niklas
    BMC MEDICAL GENETICS, 2014, 15
  • [50] A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease
    Züchner, S
    Sperfeld, AD
    Senderek, J
    Sellhaus, B
    Hanemann, CO
    Schröder, JM
    BRAIN, 2003, 126 : 920 - 927
12345