CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vitreous: A case report and literature review

2021 ◽  
Author(s):  
L.M. Zuluaga Gómez ◽  
S.C. Caballero Mojica ◽  
G.J. Vélez Rengifo ◽  
J.D. Bravo Acosta ◽  
J.H. Montoya Villada
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Neurodevelopmental Disorder ◽  
Ctnnb1 Gene

scholarly journals Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Manuela Quiroga-Carrillo ◽  
Cristian Correa-Arrieta ◽  
Fernando Ortiz-Corredor ◽  
Fernando Suarez-Obando
Keyword(s):  
Physical Activity ◽  
Case Report ◽  
Literature Review ◽  
Point Mutation ◽  
Gene Mutation ◽  
Musculoskeletal Disorder ◽  
Autosomal Dominant ◽  
Point Mutations ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.

scholarly journals Multiple gastrointestinal stromal tumors caused by a novel germline KIT gene mutation (Asp820Gly): a case report and literature review

2020 ◽  
Vol 23 (4) ◽  
pp. 760-764 ◽  
Author(s):  
Jun Arima ◽  
Masako Hiramatsu ◽  
Kohei Taniguchi ◽  
Toshihiro Kobayashi ◽  
Ichiro Tsunematsu ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Gastrointestinal Stromal Tumors ◽  
Stromal Tumors ◽  
Kit Gene

scholarly journals A TYK2 Gene Mutation c.2395G>A Leads to TYK2 Deficiency: A Case Report and Literature Review

2020 ◽  
Vol 8 ◽  
Author(s):  
Peilin Wu ◽  
Suqing Chen ◽  
Bin Wu ◽  
Junhong Chen ◽  
Ge Lv
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation

scholarly journals UBA1 and DNMT3A Mutations in VEXAS Syndrome. A Case Report and Literature Review

2021 ◽  
Author(s):  
Farah Shaukat ◽  
Melissa Hart ◽  
Timothy Burns ◽  
Pankaj Bansal
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Clinical Features ◽  
Somatic Mutation ◽  
Review Of Literature ◽  
Unique Case ◽  
Hematological Abnormalities ◽  
Autoinflammatory Condition

Abstract VEXAS syndrome is a recently described X-linked autoinflammatory condition associated with somatic mutation of the UBA1 gene. It often coexists with MDS which can occur due to DNMT3A mutation. These patients, predominantly males, present after the fifth decade of life with unique systemic inflammatory clinical features and have hematological abnormalities and vacuolated precursor cells on bone marrow pathology. Here we describe a unique case of VEXAS syndrome in a patient harboring DNMT3A gene mutation with coexisting UBA1 mutation with a review of literature.

scholarly journals Bilateral horizontal gaze palsy in an 8-year-old girl; rare case with NDUFS4 gene mutation: a case report and literature review

2020 ◽  
Author(s):  
Mohammad Vafaee Shahi ◽  
Saeide Ghasemi ◽  
Mehran Beiraghi Toosi ◽  
Mahmoud Reza Ashrafi ◽  
Reza Shervin Badv ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Rare Case ◽  
Horizontal Gaze ◽  
Gaze Palsy
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