Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases.

Huseyin Onay, Deniz Kor, Fatma Derya Bulut, Ezgi Irmak Burgac, Bahadir Onay, Irem Kaplan, Halise Neslihan Onenli Mungan

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Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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7 authors.

Huseyin OnayMultigen Genetic Diseases Diagnosis Center, Izmir, Turkey.

Deniz KorDepartment of Pediatrics, Pediatric Metabolism and Nutrition Department Cukurova University, Faculty of Medicine, Adana, Turkey.

Fatma Derya BulutDepartment of Pediatrics, Pediatric Metabolism and Nutrition Department Cukurova University, Faculty of Medicine, Adana, Turkey.

Ezgi Irmak BurgacDepartment of Pediatrics, Pediatric Metabolism and Nutrition Department Cukurova University, Faculty of Medicine, Adana, Turkey.

Bahadir OnayGene2Info Sag.Hiz., Istanbul, Turkey.

Irem KaplanDepartment of Pediatrics, Pediatric Metabolism and Nutrition Department Cukurova University, Faculty of Medicine, Adana, Turkey.

Halise Neslihan Onenli MunganDepartment of Pediatrics, Pediatric Metabolism and Nutrition Department Cukurova University, Faculty of Medicine, Adana, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a diagnostic workflow integrating deep intronic and RNA sequencing to resolve genetically unsolved Pompe cases. A five-year-old girl with hypertrophic cardiomyopathy, muscle weakness, recurrent respiratory tract infections, elevated CK levels, and low alpha-glucosidase enzyme activity was referred to the metabolism department. Genetic tests for Pompe disease, conducted by two different genetic laboratories, failed to detect any mutation. Two years later, the patient was referred for further genetic testing. As the third-step genetic test in our diagnostic algorithm, following exonic sequencing and MLPA, the

Indexed as

Alternative splicingDiagnostic algorithmPompe diseaseRNA sequence analysesWhole gene sequencing

Identifiers

PMID41890542

DOI10.1016/j.ymgmr.2026.101307

PMCPMC13014661

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