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Article

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.

European journal of medical genetics - 1 Sept 2015

Gurrieri Fiorella, Cavaliere Maria Luigia, Wischmeijer Anita, Mammì Corrado, Neri Giovanni, Pisanti Maria Antonietta, Rodella Giulia, Laganà Carmelo, Priolo Manuela

Abstract excerpt

The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX...

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Source

Identifiers

PMID: 26193383
DOI: 10.1016/j.ejmg.2015.06.009

Genes

NFIX
NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 11 closest

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.PMID 26193383Read ↗

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.Semantic proximity Read ↗

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.Semantic proximity Read ↗

A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome.Semantic proximity Read ↗

A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.Semantic proximity Read ↗

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.Semantic proximity Read ↗

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.Semantic proximity Read ↗

<i>NFIX</i> missense variants that disrupt the β-hairpin loop result in a severe form of Malan syndrome in adolescence with rapidly evolving scoliosis and muscle wastingSemantic proximity Read ↗

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.Semantic proximity Read ↗

Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.Semantic proximity Read ↗

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.Semantic proximity Read ↗

Differential Binding of the NFE3 and CP1/NFY Transcription Factors to the Human γ- and ∊-Globin CCAAT BoxesSemantic proximity Read ↗

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