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 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

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.

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

scholarly journals Sporadic Case of CHARGE Syndrome With Chromodomain-Helicase-DNA-Binding Protein 7 (CDH7) Gene Mutation

Cureus ◽  
2020 ◽  
Author(s):  
Batool Wael Alnahar ◽  
Ahmed M Alsheikh ◽  
Amani G Alruhaimi ◽  
Ibtesam A Abdulghani
Keyword(s):  
Dna Binding ◽  
Gene Mutation ◽  
Binding Protein ◽  
Sporadic Case ◽  
Charge Syndrome ◽  
Dna Binding Protein

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

A sporadic case of porokeratosis plantaris palmaris et disseminata

1998 ◽  
Vol 138 (3) ◽  
pp. 556-557 ◽  
Author(s):  
Lucke ◽  
Fallowfield ◽  
Kemmett
Keyword(s):  
Sporadic Case ◽  
Palmaris Et Disseminata
Sign in / Sign up

Export Citation Format

Share Document