Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A

2017 ◽  
Vol 173 (10) ◽  
pp. 2821-2825 ◽  
Author(s):  
Takashi Enokizono ◽  
Tatsuyuki Ohto ◽  
Ryuta Tanaka ◽  
Mai Tanaka ◽  
Hisato Suzuki ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Preaxial Polydactyly

Ataluren: Clinical Trial Results in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
U. Schara ◽  
C. McDonald ◽  
K. Bushby ◽  
M. Tulinius ◽  
R. Finkel ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Clinical Trial Results

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome

2021 ◽  
Vol 141 ◽  
pp. 110561
Author(s):  
Haisheng Zeng ◽  
Mingyu Xie ◽  
Jianbo Li ◽  
Haoqiang Xie ◽  
Xiaomei Lu
Keyword(s):  
Nonsense Mutation ◽  
Treacher Collins Syndrome

scholarly journals A new syndrome: Heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs

1999 ◽  
Vol 1 (3) ◽  
pp. 104-108 ◽  
Author(s):  
Taosheng Huang ◽  
Ellen R Elias ◽  
John B Mulliken ◽  
Daniel J Kirse ◽  
Lewis B Holmes
Keyword(s):  
Heart Defects ◽  
Preaxial Polydactyly

scholarly journals A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Wen-Tao He ◽  
Xiong Wang ◽  
Wen Song ◽  
Xiao-Dong Song ◽  
Yan-Jun Lu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Nonsense Mutation ◽  
Hormone Replacement ◽  
Ct Scanning ◽  
Related Family ◽  
Contrast Enhanced Ct ◽  
Severe Diabetes ◽  
Contrast Enhanced ◽  
Enhanced Ct ◽  
Adrenocortical Hyperplasia

Abstract Background Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare form of adrenal Cushing’s syndrome. The slowly progressing expansion of bilateral adrenal tissues usually persists for dozens of years, leading to delayed onset with severe conditions due to chronic mild hypercortisolism. About 20–50% cases were found to be caused by inactivating mutation of armadillo repeat-containing protein 5 (ARMC5) gene. Case presentation A 51-year-old man was admitted for severe diabetes mellitus, resistant hypertension, centripedal obesity and edema. PBMAH was diagnosed after determination of adrenocorticotropic hormone and cortisol levels, dexamethasone suppression tests and abdominal contrast-enhanced CT scanning. The metabolic disorders of the patient remarkably improved after sequentially bilateral laparoscopic adrenalectomy combined with hormone replacement. Sanger sequencing showed germline nonsense mutation of ARMC5 c.967C>T (p.Gln323Ter). The second somatic missense mutation of ARMC5 was detected in one out of two resected nodules, reflecting the second-hit model of tumorigenesis. Routine genetic testing in his apparently healthy offspring showed one of two daughters and one son harbored the germline mutation. Conclusions In conclusion, our case report highlight the importance of genetic testing in the molecular diagnosis of PBMAH. Genetic screening in related family members will find out asymptomatic variant carriers to guide life-long follow-up.

Sign in / Sign up

Export Citation Format

Share Document