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A de novo mutation in MDM1 (HGNC:29917) has been identified in a patient with intellectual disability (MONDO_0001071), suggesting a potential role in neurodevelopmental disorders. This single case, involving 1 proband (PMID:38868186), provides preliminary genetic evidence for the disease association. Although the patient also carries a TLK1 variant, the MDM1 mutation, c.1197dupT (p.Lys400Ter), is the focus of this summary. The truncating nature of this variant is predicted to result in a loss-of-function effect consistent with a haploinsufficient mechanism.
However, the evidence is presently limited by the lack of additional independent cases or segregation data beyond this single de novo event. No direct functional assays have been performed for MDM1 to further validate its role in intellectual disability, leaving the gene–disease association as tentative and warranting additional study. This concise summary aids diagnostic decision‑making and underscores the need for further investigation into MDM1 in neurodevelopmental contexts.
Gene–Disease AssociationLimitedAssociation based on a single de novo proband (PMID:38868186) with intellectual disability and no segregation data. Genetic EvidenceLimitedEvidence comprises only one de novo truncating variant in MDM1 in a patient with intellectual disability (PMID:38868186). Functional EvidenceLimitedNo direct functional assays were performed for MDM1, though the truncating variant is predicted to cause loss-of-function consistent with haploinsufficiency (PMID:38868186). |