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Article

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.

American journal of medical genetics. Part A - 1 May 2015

Nakamura Yoshie, Takagi Masaki, Yoshihashi Hiroshi, Miura Masaru, Narumi Satoshi, Hasegawa Tomonobu, Miyake Yoshishige, Hasegawa Yukihiro

Abstract excerpt

Sotos syndrome (SoS, OMIM #117550) is an overgrowth syndrome. Deletions or intragenic mutations of the NSD1 , which is located at chromosome 5q35, are responsible for more than 75% of SoS. Conventionally, neonatal hypoglycemia was reported briefly as one of the infrequent symptoms of SoS. However, Matsuo et al. published a report describing five patients with SoS who presented with transient hyperinsulinemic...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Congenital Hyperinsulinism

Share to Histone-Lysine N-Methyltransferase

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Share to Intracellular Signaling Peptides and Proteins

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Source

Identifiers

PMID: 25712828
DOI: 10.1002/ajmg.a.36996

Genes

NSD1
ABCC8
GCK
GLUD1
KCNJ11

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 · 12 closest

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.PMID 25712828Read ↗

Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 DeletionSemantic proximity Read ↗

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.Semantic proximity Read ↗

Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.Semantic proximity Read ↗

First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.Semantic proximity Read ↗

[Sotos syndrome: a novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa].Semantic proximity Read ↗

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.Semantic proximity Read ↗

A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.Semantic proximity Read ↗

[Mixed clinical phenotype of deletion and duplication of the Sotos syndrome region: 5q35.2-q35.3 microdeletion detected by CGH array].Semantic proximity Read ↗

Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.Semantic proximity Read ↗

Sotos syndrome in two children from India.Semantic proximity Read ↗

[Clinical phenotypes and a genetic analysis of patients with Sotos syndrome].Semantic proximity Read ↗

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