A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses

2012 ◽  
Vol 94 (11) ◽  
pp. e76-1-6 ◽  
Author(s):  
María Andrea Delgado ◽  
Patricia Sarrión ◽  
Nydia Azar ◽  
Lorena Zecchini ◽  
Hector Hugo Robledo ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Multiple Hereditary Exostoses ◽  
Ext1 Gene

Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)

2004 ◽  
Vol 66 (2) ◽  
pp. 144-151 ◽  
Author(s):  
M Faiyaz-Ul-Haque ◽  
W Ahmad ◽  
SHE Zaidi ◽  
S Hussain ◽  
S Haque ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Multiple Hereditary Exostoses ◽  
Ext1 Gene

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 Reconstruction of the Hip in Multiple Hereditary Exostoses

Children ◽  
2021 ◽  
Vol 8 (6) ◽  
pp. 490
Author(s):  
Dong Hoon Lee ◽  
Dror Paley
Keyword(s):  
Hip Joint ◽  
Joint Involvement ◽  
Neck Shaft Angle ◽  
Multiple Hereditary Exostoses ◽  
Femur Neck ◽  
Radiographic Outcomes ◽  
Surgical Dislocation ◽  
Center Edge ◽  
Shaft Angle ◽  
Coxa Valga

The hip joint involvement in multiple hereditary exostoses (MHE) occurs in 30–90%, causing pain and limitation of motion by femoroacetabular impingement, coxa valga, acetabular dysplasia, hip joint subluxation, and osteoarthritis. The purpose of this study was to investigate the clinical and radiographic outcomes of ten hips in seven patients treated by surgical dislocation and corrective osteotomies between 2004 and 2009. Surgical dislocation and excision of the osteochondromas and varus intertrochanteric osteotomies were performed in all cases when the neck–shaft angle was > 150°. Common sites of osteochondromas were medial, posterior, and anterior neck of the femur. Neck–shaft angle of the femur was improved from a mean of 157° to 139°, postoperatively. On an average, the center-edge angle improved from 20° to 30° postoperatively. We believe that Ganz’s safe surgical dislocation technique is the preferred treatment of MHE. This safeguards the circulation of the femoral head and the osteochondromas can be resected under direct vision. It can be combined with additional corrective osteotomies because the hip affected by MHE is frequently associated with dysplastic changes which can result in premature osteoarthritis.

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.

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