Abstract
Background
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.
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Data availability
The data used to support the findings of this study are available from the corresponding author upon reasonable request.
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Acknowledgements
We 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.
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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. All clinicians (MO, KA, ZE, HM, CA, KB, AG, MD, HS, OFB, FIV, IKG, RO and IT) had important roles in the data collection and interpretation of these patients.
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This study was approved by Inonu University Faculty of Medicine Non-Invasive Clinical Research Ethics Committee (approval no.: 2024/5818). The study was conducted following the guidelines and regulations outlined by the relevant ethics committees and institutional review boards. Informed consent was obtained from the parents of the patients described.
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Ozturk, M., Ates, K., Esener, Z. et al. Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families. Mol Biol Rep 51, 736 (2024). https://doi.org/10.1007/s11033-024-09656-6
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DOI: https://doi.org/10.1007/s11033-024-09656-6