scholarly journals Identification of a novel pathogenic COL4A3 gene mutation in a Chinese family with autosomal dominant Alport syndrome: A case report

2021 ◽  
Vol 15 (5) ◽  
Author(s):  
Da-An Nie ◽  
Chao-Rui Xia ◽  
Ke-Cheng Huang ◽  
Jie Liu ◽  
Ting Gan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Alport Syndrome ◽  
Autosomal Dominant ◽  
Chinese Family

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

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 A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Xin-Yi Xia ◽  
Na Li ◽  
Xiang Cao ◽  
Qiu-Yue Wu ◽  
Tian-Fu Li ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Chinese Family

scholarly journals Alport syndrome combined with lupus nephritis in a Chinese family: A case report

2021 ◽  
Vol 9 (18) ◽  
pp. 4721-4727
Author(s):  
Hui-Fang Liu ◽  
Qing Li ◽  
You-Qun Peng
Keyword(s):  
Case Report ◽  
Lupus Nephritis ◽  
Alport Syndrome ◽  
Chinese Family

scholarly journals Case Report: Congenital absence of uvula and trismus - a rare presentation of Van der Woude syndrome

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 166
Author(s):  
Victoria Geraldo ◽  
Abdallah Assaf ◽  
Muaz Assaf ◽  
Sohiub Assaf ◽  
Arshdeep Chauhan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Cleft Lip ◽  
Autosomal Dominant ◽  
Single Gene ◽  
Van Der Woude Syndrome ◽  
Rare Presentation ◽  
Single Gene Mutation ◽  
Autosomal Dominant Pattern ◽  
Cleft Lip Palate

Van der Woude syndrome (VWS) is the most common single gene mutation causing cleft lip/palate, responsible for approximately 2% of all cases. Inherited in an autosomal dominant pattern, VWS occurs at an incidence of 1 in 35,000 to 100,000. The most commonly reported manifestations of VWS is lip pits, cleft lip or palate. We present a case of a 34-week infant with unique and rarely reported symptoms of VWS, such as trismus and absent uvula.

scholarly journals A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism

2008 ◽  
Vol 53 (5) ◽  
pp. 475-478 ◽  
Author(s):  
Zheng Liu ◽  
Yuanming Sun ◽  
Qingming Dong ◽  
Mingliang He ◽  
Christopher H. K. Cheng ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Autosomal Dominant ◽  
Chinese Family ◽  
Tshr Gene
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