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Study · Not a test of the peptide alone · 2026

2 results

Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.

Stewart R, Ezell KM, Bell DS, Corner B, McMinn A, Cogan JD, Hamid R, Rives L, Phillips JA 3rd, Paddu N, Srivastava G, Marom R and 8 more

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Ladha FA, Soler-Alfonso C, Franciskovich R, Koziura M, Pruthi S, Richard G, Sheedy CB, Cassini T

American journal of medical genetics. Part A21 Aug 2025Cited by 1 (Europe PMC)

PMID40838347 (opens in a new tab)PMCIDPMC13282996 (opens in a new tab)DOI10.1002/ajmg.a.64233 (opens in a new tab)PepBankPUB-40838347
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Summary

Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS) revealed a MED12L variant, NM_053002.5:c.3559+2T>G. Both computational models and transcriptomic analysis confirmed that this variant induced splice loss of MED12L exon 25. Probands 2 and 3 presented with overlapping phenotypes of developmental delay; sequencing confirmed c.3441_3444dup; p.(G1149Nfs*13) and seq[GRCh37] del(3)(q25.1q25.1) chr3:g.?_151075120 variants affecting MED12L. Further investigation found diploid-triploid mosaicism in Proband 1, supporting the hypothesis that loss of MED12L function may increase risk for other cytogenetic abnormalities. Probands 2 and 3 did not harbor evidence of additional cytogenetic aberrations. In Proband 1, caloric restriction and semaglutide-pramlintide combination therapy were started at age eight and were effective in weight reduction. Overall, this report expands the phenotypic spectrum of Nizon-Isidor syndrome, highlights a potential link between MED12L and cytogenetic abnormalities, and demonstrates a case of weight loss through GLP-1 therapy in a child with a genetic obesity syndrome.
CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study2

No result from this study comes from a test of the peptide.

Studies that did not test the peptide alone2

In this study, the peptide was a lab tool or a carrier, part of a mix, or the subject of a lab method. These results are not evidence about taking the peptide.

  1. 01HumanNot a test of Semaglutide aloneCase report or seriesEfficacy outcome

    In a 7-year-old girl with Nizon-Isidor syndrome and morbid obesity, caloric restriction plus semaglutide-pramlintide combination therapy was effective in weight reduction.

    In plain wordsIn one child with a rare genetic syndrome, a diet plus semaglutide and pramlintide together led to weight loss.

    Peptide
    Semaglutide
    Outcome
    DecreaseWeight reduction
    Study

    n = 1

    Outcome group
    Body weight · Metabolic and weight

    Source sentences

    Summary
    In Proband 1, caloric restriction and semaglutide-pramlintide combination therapy were started at age eight and were effective in weight reduction.
    1 context sentence
    Summary · context
    Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney.

    In this study, Semaglutide was a lab tool or a carrier, part of a mix, or the subject of a lab method. This result is not evidence about taking Semaglutide.

  2. 02HumanNot a test of Pramlintide (Symlin) aloneCase report or seriesEfficacy outcome

    In a child with Nizon-Isidor syndrome, caloric restriction and semaglutide-pramlintide combination therapy reduced weight.

    In plain wordsIn a child with Nizon-Isidor syndrome, caloric restriction and semaglutide-pramlintide therapy reduced weight.

    Peptide
    Pramlintide (Symlin)
    Outcome
    DecreaseBody weight
    Study

    n = 1

    Outcome group
    Body weight · Metabolic and weight

    Source sentences

    Summary
    In Proband 1, caloric restriction and semaglutide-pramlintide combination therapy were started at age eight and were effective in weight reduction.

    In this study, Pramlintide (Symlin) was a lab tool or a carrier, part of a mix, or the subject of a lab method. This result is not evidence about taking Pramlintide (Symlin).

AI wrote and checked these results. AI can make mistakes, so check important results against the source.

Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

  1. Versions 4 to 9Current

    28 Oct 2026, 02:03 UTC

    The same notice was added 6 times, first on 22 Oct 2026, 02:26 UTC. The status did not change between them.

    Study results updated

  2. Version 3

    21 Oct 2026, 18:59 UTC

    Study data updated · source update from Europe PMC

  3. Version 2

    11 Oct 2026, 00:04 UTC

    Study results updated

  4. Version 1

    9 Oct 2026, 03:06 UTC

    First added · source update from Europe PMC

Subjects

Terms as the source lists them.

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