Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights

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dc.authoridSılan, Fatma / 0000-0001-7191-2240
dc.authoridAkcan, Mehmet Berkay / 0000-0003-0160-0377
dc.contributor.authorAkcan, Mehmet Berkay
dc.contributor.authorSılan, Fatma
dc.date.accessioned2025-01-27T20:35:09Z
dc.date.available2025-01-27T20:35:09Z
dc.date.issued2024
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractObjectives Adverse food reactions, often underestimated, encompass congenital monosaccharide-disaccharide metabolism disorders, yielding diverse outcomes such as abdominal pain, diarrhea, bleeding disorders, and even death. This study retrospectively scrutinized genetic variants linked to these disorders in a cohort subjected to whole-exome sequence analysis (WES), determining carrier frequencies and genotype-phenotype correlations. Methods Data from 484 patients, were retrospectively analyzed using a gene panel (ALDOB, FBP1, GALE, GALK1, GALM, GALT, LCT, SLC2A2, SLC5A1, SI) for congenital monosaccharide-disaccharide metabolism disorders. WES was performed on patients using the xGen Exome Research Panel v2 kit, utilizing Next Generation Sequence Analysis (NGS). The study encompassed pathogenic, likely pathogenic, and variant of uncertain significance (VUS) variants. Results Among 484 patients (244 female, 240 male), 17.35% carried 99 variants (67 distinct) in the analyzed genes. Pathogenic/likely pathogenic allele frequency stood at 0.013, while VUS allele frequency was 0.088. Notably, 44% (37/84) of patients harboring mutations manifested at least one relevant phenotype. Carriage frequencies ranged from 1:25 (SI gene) to 1:968 (GALE gene), with the estimated disease frequency spanning from 1:2500 to 1:3748000. Conclusions Our study underscores clinical manifestations in heterozygous carriers of recessive genetic disorders, addressing gaps in carrier frequencies and phenotypic effects for congenital monosaccharide-disaccharide metabolism disorders. This knowledge can improve these conditions' diagnosis and management, potentially preventing adverse food reactions and their associated complications.
dc.description.sponsorshipNone
dc.description.sponsorshipThis research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. We would like to thank all the participants for their participation as well as the clinicians who referred the patients to our outpatient clinic.
dc.identifier.doi10.1002/jpn3.12223
dc.identifier.endpage1260
dc.identifier.issn0277-2116
dc.identifier.issn1536-4801
dc.identifier.issue6
dc.identifier.pmid38682389
dc.identifier.scopus2-s2.0-85191870552
dc.identifier.scopusqualityQ1
dc.identifier.startpage1251
dc.identifier.urihttps://doi.org/10.1002/jpn3.12223
dc.identifier.urihttps://hdl.handle.net/20.500.12428/23583
dc.identifier.volume78
dc.identifier.wosWOS:001211183500001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofJournal of Pediatric Gastroenterology and Nutrition
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectcarrier frequency
dc.subjectgenotype-phenotype correlation
dc.subjectInborn metabolic disorders
dc.subjectnutrigenetics
dc.subjectpopulation genetics
dc.titleExploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights
dc.typeArticle

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