Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families

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dc.contributor.authorOzturk, Murat
dc.contributor.authorAtes, Kubra
dc.contributor.authorEsener, Zeynep
dc.contributor.authorMutlu, Hatice
dc.contributor.authorAydogmus, Cigdem
dc.contributor.authorBoztug, Kaan
dc.contributor.authorSarac, Hatice
dc.date.accessioned2024-08-04T20:56:06Z
dc.date.available2024-08-04T20:56:06Z
dc.date.issued2024
dc.departmentİnönü Üniversitesien_US
dc.description.abstractBackground Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings. Two genes and their associated pathogenic variants have been associated with this syndrome: SKIC3 and SKIC2. Methods and results In this case series, the clinical findings and molecular analysis results of a total of 8 patients from 5 different families who presented with persistent diarrhea and were diagnosed with THES were shared. Pathogenic variants were detected in the SKIC3 gene in 6 of our patients and in the SKIC2 gene in 2 patients. It was planned to compare the clinical findings of our patients with other patients, together with literature data, and to present yet-undefined phenotypic features that may be related to THES. In our case series, in addition to our patients with a novel variant, patient number 2 had a dual phenotype (THES and Spondyloepimetaphyseal dysplasia, sponastrime type) that has not been reported yet. Delay in gross motor skills, mild cognitive impairment, radioulnar synostosis, osteoporosis, nephropathy and cystic lesions (renal and liver) were observed as unreported phenotypic findings. Conclusions We are expanding the clinical and molecular repertoire of the syndrome regarding patients diagnosed with THES. We recommend that the NGS (next-generation sequencing) multigene panel should be used as a diagnostic tool in cases with persistent diarrhea.en_US
dc.description.sponsorshipWe thank the patients and families for their participation in this study. We also appreciate the assistance of medical doctors and nurses during sample collection. Each author named in the article has reviewed the article, approved the submission of this version of the article, and assumes full responsibility for the article.en_US
dc.identifier.doi10.1007/s11033-024-09656-6
dc.identifier.issn0301-4851
dc.identifier.issn1573-4978
dc.identifier.issue1en_US
dc.identifier.pmid38874671en_US
dc.identifier.scopus2-s2.0-85196040692en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1007/s11033-024-09656-6
dc.identifier.urihttps://hdl.handle.net/11616/102057
dc.identifier.volume51en_US
dc.identifier.wosWOS:001249231800020en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofMolecular Biology Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectTrichohepatoenteric syndromeen_US
dc.subjectSKIC3en_US
dc.subjectSKIC2en_US
dc.subjectFounder mutationen_US
dc.subjectDual phenotypeen_US
dc.titleExpanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated familiesen_US
dc.typeArticleen_US

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