A novel SGCE gene mutation in a Moroccan sporadic case with myoclonus-dystonia syndrome

Gene Reports ◽  
2018 ◽  
Vol 11 ◽  
pp. 121-123
Author(s):  
Laila Rachad ◽  
Hicham El Otmani ◽  
Adnane Karkar ◽  
Nadia El Kadmiri ◽  
Sellama Nadifi
Keyword(s):  
Gene Mutation ◽  
Sporadic Case ◽  
Myoclonus Dystonia

Myoclonus dystonia syndrome: a novel ε-sarcoglycan gene mutation with variable clinical symptoms

Gene ◽  
2014 ◽  
Vol 548 (2) ◽  
pp. 306-307 ◽  
Author(s):  
Mohamad T. Akbari ◽  
Reza Mirfakhraie ◽  
Shohreh Zare-Karizi ◽  
Gholamali Shahidi
Keyword(s):  
Gene Mutation ◽  
Clinical Symptoms ◽  
Myoclonus Dystonia

scholarly journals An Apparently Sporadic Case With Parkin Gene Mutation in a Korean Woman

2001 ◽  
Vol 58 (6) ◽  
pp. 988 ◽  
Author(s):  
Beom S. Jeon ◽  
Jong-Min Kim ◽  
Dong-Soo Lee ◽  
Nobutaka Hattori ◽  
Yoshikuni Mizuno
Keyword(s):  
Gene Mutation ◽  
Sporadic Case ◽  
Korean Woman ◽  
Parkin Gene

A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7

2016 ◽  
Vol 41 (7) ◽  
pp. 811-813 ◽  
Author(s):  
C.-X. Li ◽  
S-Q. Zhang ◽  
J. Wen ◽  
P.-J. Chen ◽  
Q.-.X. Liu ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Sporadic Case ◽  
Palmoplantar Keratosis

scholarly journals Hereditary myoclonus dystonia - rare entity diagnosed in younger children: report of a sporadic case with atypical features

2019 ◽  
Vol 7 (1) ◽  
pp. 209
Author(s):  
Varsha Mishra ◽  
Rachna Sehgal
Keyword(s):  
Quality Of Life ◽  
Lower Limb ◽  
Sporadic Case ◽  
Early Age ◽  
Rare Entity ◽  
Atypical Features ◽  
Myoclonus Dystonia ◽  
Author Report ◽  
Limb Onset

Hereditary myoclonus dystonia is a rare movement disorder characterized with combination of myoclonic jerks with mild to moderate dystonia. Mostly caused due to changes in SGCE gene. Author report case of a 3 years old girl with atypical features of lower limb onset, mild dystonia, upper limb and neck myoclonic jerks and younger onset. She was detected to have pathogenic variant of SGCE gene. A diagnosis of myoclonus dystonia should be considered at an early age also like in our case so that treatment is initiated early for better results and improved quality of life and development.

Myoclonus‐dystonia presentation of ATM gene mutation in a Canadian Mennonite

2021 ◽  
Author(s):  
Jacky Ganguly ◽  
Mellany Tuesta Bernaola ◽  
Sharan Goobie ◽  
Asuri Prasad ◽  
Mandar Jog
Keyword(s):  
Gene Mutation ◽  
Atm Gene ◽  
Myoclonus Dystonia

A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype

2011 ◽  
Vol 101 (2) ◽  
pp. e90-e92 ◽  
Author(s):  
Kristina Tedroff ◽  
Arndt Rolfs ◽  
Andreas Norling
Keyword(s):  
Gene Mutation ◽  
Myoclonus Dystonia ◽  
Unusual Phenotype

scholarly journals Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation

2021 ◽  
pp. 1-10
Author(s):  
Semra Gürsoy ◽  
Filiz Hazan ◽  
Tülay Öztürk ◽  
Rüya Çolak ◽  
Şebnem Çalkavur
Keyword(s):  
Gene Mutation ◽  
Genetic Disorder ◽  
Sporadic Case ◽  
Peripheral Blood Lymphocytes ◽  
Clinical Spectrum ◽  
Facial Features ◽  
Phenotype Correlation ◽  
Familial Cases ◽  
Sporadic Cases ◽  
Coronal Synostosis

Craniofrontonasal syndrome (CFNS) is a rare X-linked genetic disorder which is characterized by coronal synostosis, widely spaced eyes, a central nasal groove, and various skeletal anomalies. Mutations in the <i>EFNB1</i> gene in Xq13.1 are responsible for familial and sporadic cases. In the present study, we aimed to evaluate the clinical characteristics and molecular results of 4 patients with CFNS. Genomic DNA was extracted from the peripheral blood lymphocytes of all patients and their parents, and Sanger sequencing of the <i>EFNB1</i> gene was performed. A novel <i>EFNB1</i> gene mutation (c.65delG; p.Cys22SerfsTer24) was detected in a newborn who had only dysmorphic facial features and bicornuate uterus. The other 3 patients (2 familial cases and 1 sporadic case) shared the same mutation (c.196C&#x3e;T; p.R66X). However, the clinical features of these patients were highly variable. Additionally, central (meso-axial) polydactyly and deep palmar creases were detected, which have not been previously reported. CFNS has a wide clinical spectrum, but there is no clear genotype-phenotype correlation. However, central (meso-axial) polydactyly and deep palmar creases may be part of the clinical spectrum seen in CFNS. In addition, our findings expand the mutational spectrum in patients with CFNS.

NovelSGCE gene mutation in a Korean patient with myoclonus–dystonia with unique phenotype mimicking Moya–Moya disease

2007 ◽  
Vol 22 (8) ◽  
pp. 1206-1207 ◽  
Author(s):  
Eun Joo Chung ◽  
Won Yong Lee ◽  
Ji-Youn Kim ◽  
Jong-Hun Kim ◽  
Gyeong-Moon Kim ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Korean Patient ◽  
Moya Moya Disease ◽  
Myoclonus Dystonia

scholarly journals A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea

2011 ◽  
Vol 23 (3) ◽  
pp. 396 ◽  
Author(s):  
Young Jae Oh ◽  
Ha Eun Lee ◽  
Joo Yeon Ko ◽  
Young Suck Ro ◽  
Hee Joon Yu
Keyword(s):  
Gene Mutation ◽  
Sporadic Case ◽  
Mal De Meleda
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