Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!
Clinical genetics
Epigenetics
Moreno-Nishimura-Schmidt overgrowth syndrome
Rare syndrome
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Jun 2023
Jun 2023
Historique:
received:
22
07
2022
accepted:
23
09
2022
medline:
16
6
2023
pubmed:
16
6
2023
entrez:
16
6
2023
Statut:
ppublish
Résumé
Overgrowth syndromes are a heterogeneous group of genetic disorders characterized by excessive growth, often accompanied by additional clinical features, such as facial dysmorphism, hormonal imbalances, cognitive impairment, and increased risk for neoplasia. Moreno-Nishimura-Schmidt (M-N-S) overgrowth syndrome is a very rare overgrowth syndrome characterized by severe pre- and postnatal overgrowth, dysmorphic facial features, kyphoscoliosis, large hands and feet, inguinal hernia, and distinctive skeletal features. The clinical and radiological features of the disorder have been well delineated, yet its molecular pathogenesis remains unclear. We report on a Lebanese boy with M-N-S syndrome, whose clinical manifestations were compared with those of previously reported 5 affected individuals. Whole-exome sequencing combined with comparative genome hybridization analysis failed to delineate the molecular basis of the phenotype. However, epigenetic studies revealed a different methylation status of several CpG sites between him and healthy controls, with methyltransferase activity showing the most significant enrichment. An additional case of M-N-S syndrome recapitulated the clinical and radiological manifestations described in the previous reports. The data in the epigenetic studies implicated that abnormal methylations might play an essential role in development of the disease phenotype. However, additional studies in a clinically homogeneous cohort of patients are crucial to confirm this hypothesis.
Identifiants
pubmed: 37323196
doi: 10.1159/000527215
pii: msy-0014-0219
pmc: PMC10267562
doi:
Types de publication
Case Reports
Langues
eng
Pagination
219-224Informations de copyright
Copyright © 2023 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
Authors declare no conflicts of interests.
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