ReviewEuropean journal of human genetics : EJHG2015
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Review in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 75 citations in OpenAlex.
- Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.Clinical genetics · 2026Article
- NovelFrontiers in pediatrics · 2026Article
- Characterizing Key Correlates of Sleep Problems Across Rare Neurodevelopmental Genetic Disorders.Journal of autism and developmental disorders · 2025Article
- [Nuclear Factor I-X Regulates Molecular Pathways Related to Craniofacial Development Through Phase Separation].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2025Article
- Structural basis of Nuclear Factor 1-X DNA recognition provides prototypic insight into the NFI family.Nature communications · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Mechanistic insights intoFrontiers in genetics · 2025Article
- Roles of the NFI/CTF gene family in transcription and development: update 2025.Academia biology · 2025Article
- A Patient Case of Malan Syndrome Involving 19p13.2 Deletion ofJournal of clinical medicine · 2024Article
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Erythroid lineage chromatin accessibility maps facilitate identification and validation of NFIX as a fetal hemoglobin repressor.Communications biology · 2023Article
- Behavioral profiling in children and adolescents with Malan syndrome.Frontiers in child and adolescent psychiatry · 2023Article
- Early diagnosis of Malan syndrome in an infant presenting with macrocephaly.BMJ case reports · 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
- Case Report: Novel pathogenic variant inFrontiers in genetics · 2022Article
- Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.European journal of human genetics : EJHG · 2021Article
- Epigenome-wide change and variation in DNA methylation in childhood: trajectories from birth to late adolescence.Human molecular genetics · 2021Article
- Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing.Frontiers in genetics · 2021Article
- Diagnostic Approach to Macrocephaly in Children.Frontiers in pediatrics · 2021Review
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. The phenotype is characterised by moderate postnatal overgrowth and macrocephaly. Median height and head circumference in childhood are 2.0 and 2.3 standard deviations (SD) above the mean, respectively. There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. Neonatal feeding difficulties and/or hypotonia have been reported in 30% of patients. Developmental delay/learning disability have been reported in all cases and are typically moderate. Ocular phenotypes are common, including strabismus (65%), nystagmus (25% ) and optic disc pallor/hypoplasia (25%). Other recurrent features include pectus excavatum (40%) and scoliosis (25%). Eight reported patients have a deletion also encompassing CACNA1A, haploinsufficiency of which causes episodic ataxia type 2 or familial hemiplegic migraine. One previous case had episodic ataxia and one case we report has had cyclical vomiting responsive to pizotifen. In individuals with this contiguous gene deletion syndrome, awareness of possible later neurological manifestations is important, although their penetrance is not yet clear.
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