A novel nonsense mutation of the CYLD gene in a Turkish family with multiple familial trichoepithelioma

2019 ◽  
Vol 45 (4) ◽  
pp. 508-511
Author(s):  
S. Sarikaya Solak ◽  
S. Yalcıntepe ◽  
C. Atahan ◽  
N. Nagy ◽  
N. Can
Keyword(s):  
Nonsense Mutation ◽  
Turkish Family ◽  
Cyld Gene

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene

2001 ◽  
Vol 109 (4) ◽  
pp. 421-428 ◽  
Author(s):  
Consolato Sergi ◽  
Roland Penzel ◽  
Johannes Uhl ◽  
Saida Zoubaa ◽  
Heike Dietrich ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Nonsense Mutation ◽  
Turkish Family ◽  
Fetal Pathology

scholarly journals Exome sequencing reveals a nonsense mutation inTEX15causing spermatogenic failure in a Turkish family

2015 ◽  
Vol 24 (19) ◽  
pp. 5581-5588 ◽  
Author(s):  
Ozlem Okutman ◽  
Jean Muller ◽  
Yoni Baert ◽  
Munevver Serdarogullari ◽  
Meral Gultomruk ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Nonsense Mutation ◽  
Turkish Family ◽  
Spermatogenic Failure

scholarly journals Autosomal-Dominant Pseudohypoaldosteronism Type 1 in a Turkish Family Is Associated with a Novel Nonsense Mutation in the Human Mineralocorticoid Receptor Gene

2004 ◽  
Vol 89 (5) ◽  
pp. 2150-2152 ◽  
Author(s):  
Felix G. Riepe ◽  
Nils Krone ◽  
Michel Morlot ◽  
Michael Peter ◽  
Wolfgang G. Sippell ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Mineralocorticoid Receptor ◽  
Autosomal Dominant ◽  
Premature Stop Codon ◽  
Dominant Negative Effect ◽  
Incomplete Penetrance ◽  
Gradual Improvement ◽  
Turkish Family ◽  
Pseudohypoaldosteronism Type

Pseudohypoaldosteronism type 1 (PHA1) is a rare congenital disease inherited in either an autosomal-recessive or an autosomal-dominant trait. The autosomal-dominant form manifests with renal salt loss in infancy and a gradual improvement with advancing age. PHA1 presents with potential life-threatening salt wasting and failure to thrive in early infancy. Autosomal-dominant forms of PHA1 are often caused by heterozygous mutations of the MR gene coding for the mineralocorticoid receptor. Whether heterozygous mutations of the MR gene impair biological function as a result of haplo-insufficiency or due to a dominant-negative effect needs further clarification. We report a case of a renal form of PHA1 in a Turkish family. A heterozygous nonsense mutation c3055C>T (R947X) in exon 9 of the MR gene leading to a premature stop codon was identified in the index patient. The truncated receptor is free of aldosterone binding. The segregation analysis revealed the identical mutation in the patient’s father, who never showed any symptoms of PHA. This shows the incomplete penetrance of the phenotype, although a mild salt loss might have been overlooked in the father’s childhood.

Ataluren: Clinical Trial Results in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
U. Schara ◽  
C. McDonald ◽  
K. Bushby ◽  
M. Tulinius ◽  
R. Finkel ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Clinical Trial Results

A novel heterozygous mutation in exon 3 of VHL gene leading to Von Hippel-Lindau disease in a Turkish family

2019 ◽  
Author(s):  
Ozge Tasgin Yildirim ◽  
Ismail Yildiz ◽  
Fatih Horozoglu ◽  
Aysun Gonen ◽  
Cenk Murat Yazici ◽  
...  
Keyword(s):  
Heterozygous Mutation ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Turkish Family ◽  
Von Hippel Lindau Disease
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