Deletion of NSD1 exon 14 in Sotos syndrome: first description

Piccione, Maria; Consiglio, V; Fiore, Antonella; Grasso, Marina; Cecconi, Massimiliano; Perroni, L; Corsello, Giovanni

doi:10.1007/s12041-011-0017-6

Cited by 7 publications

(6 citation statements)

References 16 publications

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“…Loss function of NSD1 gene is due to microdeletion and mutations (missense variants, nonsense variants, splice variants, small insertions, and rearrangements) (Mencarelli et al., 2018 ), mainly leading to macrocephaly and overgrowth (12/14). Almost patients presented with development milestones delay in speech, dyskinesia, and different degrees of learning impairment (14/14) (Han et al., 2017 ; Piccione et al., 2011 ). Many cases were reported other clinical features, such as scoliosis, renal malformations, cardiac anomalies, syndactyly, neonatal hypotonia, joint hyperlaxity, reproductive system diseases, seizures, myopia, and conductive hearing loss (Foster et al., 2019 ; Sohn et al., 2013 ; Tatton‐Brown et al., 2005 ).…”

Section: Resultsmentioning

confidence: 99%

A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review

Liu,

Chen,

Wan

et al. 2023

Brain and Behavior

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IntroductionSotos syndrome (SS) is an overgrowth disease characterized by distinctive facial features, advanced bone age, macrocephaly, and developmental delay is associated with alterations in the NSD1 gene. Here, we report a case of a 4‐year‐old female child with SS caused by NSD1 gene nonsense mutation.MethodsWhole‐exome sequencing (WES) was applied for probands and her parents. Sanger sequencing was used to confirm the mutation. We performed the literature review using PubMed and found 12 articles and 14 patients who presented with SS.ResultsThe patient showed typical facial features of SS, hand deformities, and seizure. WES revealed de novo heterozygous variant: NSD1 (NM_022455.5), c.6095G > A, p.TRP2032*. We also reviewed the phenotype spectrum of 14 patients with SS, who exhibited a variety of clinical phenotypes, including developmental delay, seizures, scoliosis, hearing loss, cardiac and urinary system abnormalities, and so on.DiscussionThe lack of correlation between mutation sites or types and phenotypes was summarized by literature reviewing. The NSD1 protein contains 14 functional domains and this nonsense mutation was located in SET domain. Early appearance of the termination codon leads to protein truncation. Haploinsufficiency of the NSD1 gene causes the overgrowth disorders.

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Section: Resultsmentioning

confidence: 99%

A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review

Liu,

Chen,

Wan

et al. 2023

Brain and Behavior

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“…Craniofacial abnormalities in this syndrome include forehead that is broad, hairline which has been placed very high, macrocephaly, downslanting palpebral fissures, mild micrognathia and pointed chin. Renal abnormalities, cardiac anomalies, seizures, scoliosis are found in these patients with variable degrees of severity [8,9]. Variable levels of intellectual developments as well as psychomotor developments are seen.…”

Section: Introductionmentioning

confidence: 91%

“…Haematological malignancies are the very common. [8]. This paper documents a 4 year-old male child diagnosed with Sotos syndrome and describes the chief clinical features, the disease-specific craniofacial, oral and dental findings, and the required dental care management for this patient.…”

Section: Introductionmentioning

confidence: 99%

Sotos syndrome - Case report of a rare genetic disorder

Madi¹,

Babu²,

Shetty³

et al. 2016

Appl Med Res

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Sotos syndrome is a congenital disorder that is characterised by pre and post natal overgrowth, mental retardation of variable degree, advanced bone age, and distinctive craniofacial features like macrocephaly frontal bossing and high hair line. Recently several reports have presented that haploinsufficiency of the gene for NSD1 (the nuclear-receptor-binding SET-domain-containing protein 1) at 5q35 causes Sotos syndrome. This syndrome is often difficult to diagnose due to the substantial similarities with the other ill defined overgrowth phenotypes. Here we report a rare case of Sotos syndrome describing the clinical features and the craniofacial findings usually manifested in these patients.

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“…Haploinsufficiency of the transcription factor NSD1 (Nuclear Receptor Set Domain Containing Protein 1) has been identified as the major cause in approximately 90% of patients, with this disorder named Sotos syndrome 1 [Imaizumi et al, ; Kurotaki et al, ]. Subsequently, hundreds of patients with NSD1 abnormalities, either intragenic mutations or 5q35 microdeletions encompassing part or all of the gene, were reported [Douglas et al, ; Cecconi et al, ; Saugier‐Veber et al, ; Piccione et al, ]. In 2010, mutations of NFIX were identified in patients with Sotos‐like features, and referred to as Sotos syndrome 2 or Malan syndrome [Malan et al, ].…”

Section: To the Editormentioning

confidence: 99%