Homozygous/compound heterozygote
            RYR1
            gene variants: Expanding the clinical spectrum

Ebba Alkhunaizi; Shirley Shuster; Patrick Shannon; Victoria Mok Siu; Sandra Darilek; Carrie A Mohila; Sarah Boissel; Benjamin Ellezam; Catherine Fallet‐Bianco; Anne‐Marie Laberge; Julianne Zandberg; Marie Injeyan; Lili‐Naz Hazrati; Fadi Hamdan; David Chitayat

doi:10.1002/ajmg.a.61025

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.61025 ◽

2019 ◽

Vol 179 (3) ◽

pp. 386-396 ◽

Cited By ~ 7

Author(s):

Ebba Alkhunaizi ◽

Shirley Shuster ◽

Patrick Shannon ◽

Victoria Mok Siu ◽

Sandra Darilek ◽

...

Keyword(s):

Compound Heterozygote ◽

Clinical Spectrum ◽

Gene Variants ◽

Ryr1 Gene

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MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea

Genetics Research International ◽

10.1155/2019/6418759 ◽

2019 ◽

Vol 2019 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Farhad Salehzadeh ◽

Afshan Sharghi ◽

Atena Motayayagheni ◽

Saied Hosseini Asl ◽

Mahsa Mottaghi ◽

...

Keyword(s):

Normal Population ◽

Mefv Gene ◽

Mediterranean Area ◽

Compound Heterozygote ◽

Common Mutation ◽

Gene Variants ◽

Clinical Criteria ◽

Rheumatologic Diseases ◽

Healthy Control ◽

Northwest Of Iran

Background and Objective. MEFV gene codes the pyrine protein that has major role in FMF as an autoinflammatory disorder. FMF is more often seen in the people of the Mediterranean area. Considering the significant role of MEFV gene in many rheumatologic diseases and even nonrheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and normal population of this area. Methods. 224 healthy (unaffected or control) people based on the Cochran formula entered this study. The blood samples were screened for the 12 common MEFV gene variants polymorphisms according to manufacturer’s instructions (FMF Strip Assay, Vienna lab, Vienna, Austria). They filled a questionnaire containing required information. All healthy control cases initially were evaluated for FMF symptoms and signs in themselves and their first-degree relatives based on clinical criteria. All data were analyzed by simple statistical method. Results. Among 224 healthy control cases, 113 (50.4%) were male and 111 (49.6%) female. There were MEFV variants alleles in 57 patients (25%): 28 were male (49.1%) and 29 female (50.9%). The most frequent variants were E148Q (18.3%), followed by P369S (3.1%), V726A (2.2%), A744S (1.3%), and F479L, M694V, and R761H (0.8%), and eventually K695R (0.4%), respectively. Some variants such as M694I, M680I (G/C), M680I (G/A), and I692del were not seen in these samples. There were compound heterozygote variations of E148Q/P369S, E148Q/V726A, E148Q/P369S, and P369S/F479L in normal population without any findings in favor of FMF. Conclusion. Twenty-five percent of the normal populations of the northwest of Iran are carrying MEFV gene variants, and the most common mutation is E148Q (18.3%). The presence of M694I, M680I (G/C), M680I (G/A), I692del mutations in the normal population can be interpreted cautiously, while particular compound heterozygote mutations can be considered as normal variants.

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