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A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome.
Int J Dev Neurosci
August 2023
Department of Medical Genetics, S.B.Ü. Dr. Behçet Uz Children's Education and Research Hospital, Izmir, Turkey.
Marshall-Smith syndrome (MSS) and Malan syndrome (MS) are both allelic disorders caused by mutations in the NFIX gene. MS is characterized by overgrowth, intellectual disability, distinctive facial features, and accelerated skeletal maturation. On the other hand, clinical features of MSS consist of advanced bone age, dysmorphic features, intellectual disability, and failure to thrive at birth.
View Article and Find Full Text PDFA de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.
Clin Dysmorphol
October 2020
Department of Biology and Health Science, Aquinas College, Grand Rapids, Michigan, USA.
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
Pediatr Res
November 2015
Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Background: Only 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.
Methods: The 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.
Marshall-Smith syndrome.
J Perinatol
April 2015
Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA.
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Eur J Hum Genet
May 2015
1] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK [2] Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.
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.
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