Relationships between gene mutations and clinical features in cystic fibrosis

1995 ◽  
Vol 19 (S11) ◽  
pp. 63-65
Author(s):  
G. Mastella
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Features ◽  
Gene Mutations

CONGENITAL ABSENCE OF THE VAS DEFERENS: INCOMPLETE PENETRANCE OF CYSTIC FIBROSIS GENE MUTATIONS

1997 ◽  
Vol 158 (5) ◽  
pp. 1794-1799 ◽  
Author(s):  
David Shin ◽  
Fred Gilbert ◽  
Marc Goldstein ◽  
Peter N. Schlegel
Keyword(s):  
Cystic Fibrosis ◽  
Vas Deferens ◽  
Gene Mutations ◽  
Congenital Absence ◽  
Cystic Fibrosis Gene ◽  
Incomplete Penetrance

Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration

2014 ◽  
Vol 87 (1) ◽  
pp. 93-95 ◽  
Author(s):  
L.-Y. Ma ◽  
L. Wang ◽  
Y.-M. Yang ◽  
Y. Lu ◽  
F.-B. Cheng ◽  
...  
Keyword(s):  
Clinical Features ◽  
Gene Mutations ◽  
Pantothenate Kinase ◽  
Novel Gene

Evaluation of the Clinical Features Accompanied by the Gene Mutations

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Isil E. Eryilmaz ◽  
Mustafa Bakar ◽  
Unal Egeli ◽  
Gulsah Cecener ◽  
Beste Yurdacan ◽  
...  
Keyword(s):  
Clinical Features ◽  
Gene Mutations

P5.38 Clinical features of autosomal dominant ophthalmoplegia related to PEO1 gene mutations

2011 ◽  
Vol 21 (9-10) ◽  
pp. 735
Author(s):  
G.F. Polara ◽  
A. Behin ◽  
T. Stojkovic ◽  
M. Gilleron ◽  
C. Jardel ◽  
...  
Keyword(s):  
Clinical Features ◽  
Autosomal Dominant ◽  
Gene Mutations

scholarly journals Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility

2020 ◽  
Vol 40 (4) ◽  
pp. 321-329
Author(s):  
Talal AlMaghamsi ◽  
Naeem Iqbal ◽  
Nabil Abdullrahman Al-Esaei ◽  
Muhsina Mohammed ◽  
Kamel Zein Eddin ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sample Size ◽  
Conflicts Of Interest ◽  
Direct Sequencing ◽  
Tertiary Care ◽  
Gene Mutations ◽  
Small Sample ◽  
Cystic Fibrosis Gene ◽  
Control Group ◽  
Primary Infertility

ABSTRACT BACKGROUND: Some mutations of the cystic fibrosis transmembrane regulator ( CFTR ) gene may impair spermatogenesis or cause a congenital absence of the vas deferens that manifests as isolated male infertility. OBJECTIVE: Assess the frequency and analyze the spectrum of CFTR gene variations in Saudi men with primary infertility. DESIGN: Prospective, cross-sectional. SETTING: Tertiary care specialist hospital in Jeddah. PATIENTS AND METHODS: Genomic DNA was extracted from peripheral blood samples of Saudi men who presented with primary infertility to the outpatient andrology clinic with either azoospermia or oligoasthenoteratozoospermia. Polymerase chain reaction and direct sequencing were used to identify all variants of the CFTR gene. MAIN OUTCOME MEASURES: Proportion of the patients with a mutant CFTR gene and the spectrum of CFTR gene variations. SAMPLE SIZE: 50 infertile Saudi men. RESULTS: This study identified 10 CFTR gene variants in 7 (14%) subjects (100 chromosomes). The detected variants and polymorphisms were: c.1408G>A, c.4389G>A, c.2562T>G, c.869+11C>T, c.2909-92G>A, c.3469-65C>A, c.1210-6delT, c.1210-6T>A, c.2988+1G>A, and c.1210-13GT>TG. CONCLUSION: We demonstrated that 14% of the study subjects had one or more CFTR mutations and these were compounded in most of the affected patients. The spectrum of CFTR gene mutations in these subjects was similar to the mutations reported in other studies throughout the world. LIMITATIONS: Small sample size and the lack of a control group. CONFLICTS OF INTEREST: None.

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