Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16

2001 ◽  
Vol 144 (5) ◽  
pp. 1058-1062 ◽  
Author(s):  
J.B. Connors ◽  
A.K. Rahil ◽  
F.J.D. Smith ◽  
W.H.I. Mclean ◽  
L.M. Milstone
Keyword(s):  
Novel Mutation ◽  
Keratin 16 ◽  
Delayed Onset ◽  
Pachyonychia Congenita

Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b

2013 ◽  
Vol 41 (1) ◽  
pp. 108-109 ◽  
Author(s):  
Kun Guo ◽  
Shengxiang Xiao ◽  
Songmei Geng ◽  
Yiguo Feng ◽  
Dingwei Zhang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Delayed Onset ◽  
Pachyonychia Congenita

scholarly journals A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2

2004 ◽  
Vol 122 (4) ◽  
pp. 892-895 ◽  
Author(s):  
Sheng-Xiang Xiao ◽  
Yi-Guo Feng ◽  
Xiao-Rong Ren ◽  
Sheng-Shun Tan ◽  
Li Li ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Large Pedigree ◽  
Delayed Onset ◽  
Keratin 17 ◽  
Pachyonychia Congenita

scholarly journals A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

2000 ◽  
Vol 105 (3) ◽  
pp. 321-328 ◽  
Author(s):  
Antoine Tabarin ◽  
John C. Achermann ◽  
Dominique Recan ◽  
Véronique Bex ◽  
Xavier Bertagna ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Delayed Onset

scholarly journals Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1

2019 ◽  
Vol 48 (2) ◽  
pp. 030006051988215
Author(s):  
Siyue Liu ◽  
Libin Yan ◽  
Xinrong Zhou ◽  
Chen Chen ◽  
Daowen Wang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Molecular Testing ◽  
Delayed Onset ◽  
Adrenal Hypoplasia Congenita ◽  
Congenital Adrenal Hypoplasia ◽  
Translation Start ◽  
Adrenal Hypoplasia ◽  
Relevant Family History ◽  
Mild Clinical Phenotype

In this study, we described a male who presented with delayed-onset adrenal hypoplasia congenita (AHC) and mild hypogonadotropic hypogonadism (HHG) without a relevant family history. A novel mutation in the DAX1 (dosage-sensitive sex reversal, congenital adrenal hypoplasia critical region on the X chromosome, gene 1) gene was shown to cause X-linked AHC and HHG. Genetic analysis revealed a novel nonsense mutation, c.154G > T (p.Glu52Term), in the DAX1 gene. Molecular testing demonstrated that the milder phenotype caused by this mutation was due to expression of a partially functional, amino-truncated DAX1 protein generated from an alternate in-frame translation start site (methionine at codon 83). This unusual case revealed a potential mechanism for a novel mutation that resulted in an unusual delayed-onset mild clinical phenotype. It expands the spectrum of adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2

2012 ◽  
Vol 52 (1) ◽  
pp. 117-119 ◽  
Author(s):  
Wang Qiang ◽  
Wang Kaibo ◽  
Li Tienan ◽  
Zhao Guilan ◽  
Liu Yueyang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Keratin 17 ◽  
Pachyonychia Congenita

scholarly journals A Novel Mutation in K6b in Pachyonychia Congenita Type 2

2007 ◽  
Vol 127 (8) ◽  
pp. 2060-2062 ◽  
Author(s):  
Vishakha M. Sharma ◽  
Sarah L. Stein
Keyword(s):  
Novel Mutation ◽  
Pachyonychia Congenita

Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2

2013 ◽  
Vol 40 (9) ◽  
pp. 757-758
Author(s):  
Makoto Ichimiya ◽  
Michiya Yamaguchi ◽  
Kei Nemoto ◽  
Masahiko Muto
Keyword(s):  
Novel Mutation ◽  
Keratin 17 ◽  
Pachyonychia Congenita
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