ArticlePediatric research2015
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
Article in Pediatric research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 49 citations in OpenAlex.
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- A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of theCase reports in genetics · 2026Article
- NovelFrontiers in pediatrics · 2026Article
- Idiopathic Short Stature in the Genomic Era: Integrating Auxology, Endocrinology, and Emerging Genetic Insights.Children (Basel, Switzerland) · 2025Review
- Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.EBioMedicine · 2025Article
- Mechanistic insights intoFrontiers in genetics · 2025Article
- Roles of the NFI/CTF gene family in transcription and development: update 2025.Academia biology · 2025Article
- Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Article
- Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up.Children (Basel, Switzerland) · 2024Article
- Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.American journal of medical genetics. Part A · 2024Article
- Article
- Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives.Bone reports · 2024Review
- Erythroid lineage chromatin accessibility maps facilitate identification and validation of NFIX as a fetal hemoglobin repressor.Communications biology · 2023Article
- Article
- Further characterization of NFIB-associated phenotypes: Report of two new individuals.American journal of medical genetics. Part A · 2023Article
- Hydrocephalus inCells · 2022Article
- Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.Journal of clinical medicine · 2022Article
- A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.Orphanet journal of rare diseases · 2022Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOnly 15 point mutations in NFIX gene have been reported so far, nine of them cause the Marshall-Smith syndrome (MSS) and the remaining mutations lead to an overgrowth disorder with a less severe phenotype, defined as Sotos-like.
methodsThe clinical findings in three patients with MSS and two patients with a Sotos-like phenotype are presented. Analysis of the NFIX gene was performed both by conventional or next-generation sequencing.
resultsFive de novo mutations in NFIX gene were identified, four of them not previously reported. Two frameshift mutations and a donor-splice one caused MSS, while two missense mutations in the DNA binding/dimerisation domain entailed an overgrowth syndrome with some clinical features resembling Sotos syndrome, accompanied by a marfanoid habitus, very low BMI, long narrow face, or arachnodactyly.
conclusionMarshall-Smith mutations are scattered through exons 6-10 of NFIX gene, while most point mutations causing an overgrowth syndrome are clustered in exon 2. Clinical features of this overgrowth syndrome may well be considered an intermediate phenotype between Sotos and Marfan syndromes.
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