Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the <scp><i>ATP8A2</i></scp> Gene: A 7‐Year Follow‐Up With Clinical, Genetic, and <scp>ACMG</scp> Insights in an Iranian Family

The identification of an in-frame deletion variant in the ATP8A2 gene enhances our understanding of CAMRQ syndrome and highlights the phenotypic variability of the disorder. Our study contributes to the elucidation of CAMRQ syndrome by identifying a novel genetic variant and elucidating its clinical and genetic implications. Further research is warranted to advance our understanding of CAMRQ syndrome and to improve patient care and management strategies.

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Publication Details

Journal
Molecular Genetics & Genomic Medicine
Published
2025-02-01
DOI
https://doi.org/10.1002/mgg3.70081
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.00
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article

Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7‐Year Follow‐Up With Clinical, Genetic, and ACMG Insights in an Iranian Family

Siamak Mirab Samiee, Samira Kalayinia, Nejat Mahdieh, Bahman Akbari et al.
Molecular Genetics & Genomic Medicine
Mitochondrial Function and Pathology
article

Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7‐Year Follow‐Up With Clinical, Genetic, and ACMG Insights in an Iranian Family

Siamak Mirab Samiee, Samira Kalayinia, Nejat Mahdieh, Bahman Akbari, Reza Shervin Badv, Maryam Rabbani, Sedighe Nikbakht, Ameneh Sharifi, Hamed Hesami, Zohreh Hosseinkhani
article en

Abstract

The identification of an in-frame deletion variant in the ATP8A2 gene enhances our understanding of CAMRQ syndrome and highlights the phenotypic variability of the disorder. Our study contributes to the elucidation of CAMRQ syndrome by identifying a novel genetic variant and elucidating its clinical and genetic implications. Further research is warranted to advance our understanding of CAMRQ syndrome and to improve patient care and management strategies.

Molecular Genetics & Genomic MedicineVol. 13(2)
Kermanshah University of Medical Sciences (IR), Children's Medical Center (IR), Shaheed Rajaei Cardiovascular Medical and Research Center (IR), Shahid Beheshti University of Medical Sciences (IR), Tehran University of Medical Sciences (IR)
Good health and well-being
Openalex Percentile: Top 98%
Mitochondrial Function and Pathology
DOIOpen Access PDFOpenAlex
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Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the <scp><i>ATP8A2</i></scp> Gene: A 7‐Year Follow‐Up With Clinical, Genetic, and <scp>ACMG</scp> Insights in an Iranian Family — Siamak Mirab Samiee, Samira Kalayinia, et al. · Molecular Genetics & Genomic Medicine (2025) | TGRS Research Map | TGRS