Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey-Hailey disease are allelic disorders

2018 ◽  
Vol 179 (4) ◽  
pp. 1001-1002 ◽  
Author(s):  
D. Vodo ◽  
N. Malchin ◽  
M. Furman ◽  
O. Sarig ◽  
E. Sprecher
Keyword(s):  
Recurrent Mutation ◽  
Allelic Disorders ◽  
Acantholytic Dyskeratosis

scholarly journals Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

2005 ◽  
Vol 83 (3) ◽  
pp. 240-240
Author(s):  
Yaacov Frishberg ◽  
Orit Topaz ◽  
Reuven Bergman ◽  
Doron Behar ◽  
Drora Fisher ◽  
...  
Keyword(s):  
Recurrent Mutation ◽  
Tumoral Calcinosis ◽  
Allelic Disorders

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

2004 ◽  
Vol 83 (1) ◽  
pp. 33-38 ◽  
Author(s):  
Yaacov Frishberg ◽  
Orit Topaz ◽  
Reuven Bergman ◽  
Doron Behar ◽  
Drora Fisher ◽  
...  
Keyword(s):  
Recurrent Mutation ◽  
Tumoral Calcinosis ◽  
Allelic Disorders

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

2020 ◽  
Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Neurodevelopmental Disorder ◽  
Recurrent Mutation ◽  
Clinical Suspicion ◽  
Alexander Disease ◽  
Brain Anomalies ◽  
Progressive Encephalopathy ◽  
Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

scholarly journals Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yousra Benmakhlouf ◽  
Renaud Touraine ◽  
Ines Harzallah ◽  
Zeineb Zian ◽  
Kaoutar Ben Makhlouf ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Sample Size ◽  
Mutational Analysis ◽  
Homeobox Gene ◽  
Recurrent Mutation ◽  
Neuropsychiatric Disorder ◽  
Good Tool ◽  
Genetic Studies ◽  
Exon 2 ◽  
Moroccan Patients

Abstract Objective Intellectual Disability (ID) represents a neuropsychiatric disorder, which its etiopathogenesis remains insufficiently understood. Mutations in the Aristaless Related Homeobox gene (ARX) have been identified to cause syndromic and nonsyndromic (NS-ID). The most recurrent mutation of this gene is a duplication of 24pb, c.428-451dup. Epidemiological and genetic studies about ID in the Moroccan population remain very scarce, and none study is carried out on the ARX gene. This work aimed to study c.428–451dup (24 bp) mutation in the exon 2 of the ARX gene in 118 males’ Moroccan patients with milder NS-ID to evaluate if the gene screening is a good tool for identifying NS-ID. Results Our mutational analysis did not show any dup(24pb) in our patients. This is because based on findings from previous studies that found ARX mutations in 70% of families with NS-ID, and in most cases, 1.5–6.1% of individuals with NS-ID have this duplication. Since 1/118 = 0.0084 (0.84%) is not much different from 1.5%, then it is reasonable that this could a sample size artifact. A complete screening of the entire ARX gene, including the five exons, should be fulfilled. Further investigations are required to confirm these results.

Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

2015 ◽  
Vol 174 (2) ◽  
pp. 430-432 ◽  
Author(s):  
A. Abdul-Wahab ◽  
T. Takeichi ◽  
L. Liu ◽  
D. Lomas ◽  
B. Hughes ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Recurrent Mutation ◽  
Palmoplantar Keratoderma ◽  
Aquaporin 5

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

1995 ◽  
Vol 10 (3) ◽  
pp. 357-359 ◽  
Author(s):  
Gary A. Bellus ◽  
Iain McIntosh ◽  
E. Anne Smith ◽  
Arthur S. Aylsworth ◽  
Ilkka Kaitila ◽  
...  
Keyword(s):  
Growth Factor ◽  
Tyrosine Kinase ◽  
Fibroblast Growth Factor ◽  
Fibroblast Growth Factor Receptor ◽  
Growth Factor Receptor ◽  
Kinase Domain ◽  
Recurrent Mutation ◽  
Tyrosine Kinase Domain ◽  
Fibroblast Growth
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