A novel c.916C>A EDA gene pathogenic variant in a boy with X-linked hypohidrotic ectodermal dysplasia

被引：2
|
作者：
Mintoff, D. [1 ]
Pace, N. P. [2 ]
Mercieca, V. [4 ]
Bauer, P. [5 ]
Borg, I. [2 ,3 ,6 ]
机构：
[1] Mater Hosp, Dept Dermatol & Venereol, Msida, Malta
[2] Univ Malta, Ctr Mol Med & Biobanking, Msida, Malta
[3] Univ Malta, Fac Med & Surg, Dept Pathol, Msida, Malta
[4] Gozo Gen Hosp, Dept Paediat, Victoria, Gozo, Malta
[5] CENTOGENE AG, Rostock, Germany
[6] Mater Dei Hosp, Dept Pathol, Med Genet Unit, Msida, Malta
来源：
CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2021年 / 46卷 / 03期
关键词：
D O I：
10.1111/ced.14522
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：618 / 620
页数：3
相关论文
共 50 条
  • [1] A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia
    Rasouliha, S. Hadji
    Bauer, A.
    Dettwiler, M.
    Welle, M. M.
    Leeb, T.
    ANIMAL GENETICS, 2018, 49 (06) : 651 - 654
  • [2] Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia
    Xue, J. J.
    Tan, B.
    Gao, Q. P.
    Zhu, G. S.
    Liang, D. S.
    Wu, L. Q.
    GENETICS AND MOLECULAR RESEARCH, 2015, 14 (04) : 15779 - 15782
  • [3] EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
    Rietmann, Stefan J.
    Cochet-Faivre, Noelle
    Dropsy, Helene
    Jagannathan, Vidhya
    Chevallier, Lucie
    Leeb, Tosso
    GENES, 2024, 15 (07)
  • [4] A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
    Alksere, Baiba
    Kornejeva, Liene
    Grinfelde, Ieva
    Dzalbs, Aigars
    Enkure, Dace
    Conka, Una
    Andersone, Santa
    Blumberga, Arita
    Nikitina-Zake, Liene
    Kangare, Liga
    Radovica-Spalvina, Ilze
    Vasiljeva, Inta
    Gailite, Linda
    Erenpreiss, Juris
    Fodina, Violeta
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2021, 29
  • [5] First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?
    Tumminello, Mario
    Gangemi, Antonella
    Matina, Federico
    Guardino, Melania
    Giuffre, Bianca Lea
    Corsello, Giovanni
    ITALIAN JOURNAL OF PEDIATRICS, 2021, 47 (01)
  • [6] First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?
    Mario Tumminello
    Antonella Gangemi
    Federico Matina
    Melania Guardino
    Bianca Lea Giuffrè
    Giovanni Corsello
    Italian Journal of Pediatrics, 47
  • [7] X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation
    Savasta, Salvatore
    Carlone, Giorgia
    Castagnoli, Riccardo
    Chiappe, Francesca
    Bassanese, Francesco
    Piras, Roberta
    Salpietro, Vincenzo
    Brazzelli, Valeria
    Verrotti, Alberto
    Marseglia, Gian L.
    CYTOGENETIC AND GENOME RESEARCH, 2017, 152 (03) : 111 - 116
  • [8] A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia
    Canueto, J.
    Zafra-Cobo, M. I.
    Ciria, S.
    Unamuno, P.
    Gonzalez-Sarmiento, R.
    ACTAS DERMO-SIFILIOGRAFICAS, 2011, 102 (09): : 722 - 725
  • [9] Identification of a novel mutation in the EDA gene in a Korean patient with X-linked hypohidrotic ectodermal dysplasia
    Kim, Dong Ha
    Son, In Pyeong
    Lee, Jin Woong
    Lee, Hye In
    Kim, Ji Hyun
    Lim, In Suck
    Kim, Beom Joon
    Kim, Myeung Nam
    JOURNAL OF DERMATOLOGY, 2010, 37 : 103 - 103
  • [10] Novel nonsense mutation of the EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia
    Wang, Hao
    Xie, Le-si
    JOURNAL OF DERMATOLOGY, 2014, 41 (11): : 1014 - 1016
12345