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

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

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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 hypoglycemia (HIH) in the neonatal period. We report on an additional patient of SoS, who presented transient HIH in the neonatal period. All of this patient and previous patients have microdeletions at the 5q35 chromosome. Therefore, we examined the following three in considering the possibility that other factor than NSD1 caused HIH. 1) This patient had no mutation of four currently known HIH related genes, ABCC8, KCNJ11, GLUD1, and GCK. 2) He had no further deletion than commonly observed region encompassing NSD1 by comparative genomic hybridization to DNA microarrays. 3) He had no mutation in the 5q35 region in the non-deleted chromosome using exsome sequence analysis. In conclusion, our patient supported that HIH could be one of the characteristic symptoms of SoS in the neonatal period, and could be useful for early diagnosis.

Original languageEnglish
Pages (from-to)1171-1174
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number5
DOIs
Publication statusPublished - 2015 May 1

Fingerprint

Sotos Syndrome
Hypoglycemia
Chromosomes
Mutation
Genetic Databases
Comparative Genomic Hybridization
Oligonucleotide Array Sequence Analysis
Sequence Analysis
Early Diagnosis

Keywords

  • Hyperinsulinemic hypoglycemia
  • Sotos syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A case with neonatal hyperinsulinemic hypoglycemia : It is a characteristic complication of sotos syndrome. / Nakamura, Yoshie; Takagi, Masaki; Yoshihashi, Hiroshi; Miura, Masaru; Narumi, Satoshi; Hasegawa, Tomonobu; Miyake, Yoshishige; Hasegawa, Yukihiro.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 5, 01.05.2015, p. 1171-1174.

Research output: Contribution to journalArticle

Nakamura, Yoshie ; Takagi, Masaki ; Yoshihashi, Hiroshi ; Miura, Masaru ; Narumi, Satoshi ; Hasegawa, Tomonobu ; Miyake, Yoshishige ; Hasegawa, Yukihiro. / A case with neonatal hyperinsulinemic hypoglycemia : It is a characteristic complication of sotos syndrome. In: American Journal of Medical Genetics, Part A. 2015 ; Vol. 167, No. 5. pp. 1171-1174.
@article{e1577a4e883d483dae402926401a2522,
title = "A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome",
abstract = "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 hypoglycemia (HIH) in the neonatal period. We report on an additional patient of SoS, who presented transient HIH in the neonatal period. All of this patient and previous patients have microdeletions at the 5q35 chromosome. Therefore, we examined the following three in considering the possibility that other factor than NSD1 caused HIH. 1) This patient had no mutation of four currently known HIH related genes, ABCC8, KCNJ11, GLUD1, and GCK. 2) He had no further deletion than commonly observed region encompassing NSD1 by comparative genomic hybridization to DNA microarrays. 3) He had no mutation in the 5q35 region in the non-deleted chromosome using exsome sequence analysis. In conclusion, our patient supported that HIH could be one of the characteristic symptoms of SoS in the neonatal period, and could be useful for early diagnosis.",
keywords = "Hyperinsulinemic hypoglycemia, Sotos syndrome",
author = "Yoshie Nakamura and Masaki Takagi and Hiroshi Yoshihashi and Masaru Miura and Satoshi Narumi and Tomonobu Hasegawa and Yoshishige Miyake and Yukihiro Hasegawa",
year = "2015",
month = "5",
day = "1",
doi = "10.1002/ajmg.a.36996",
language = "English",
volume = "167",
pages = "1171--1174",
journal = "American Journal of Medical Genetics",
issn = "1552-4868",
publisher = "Wiley-Liss Inc.",
number = "5",

}

TY - JOUR

T1 - A case with neonatal hyperinsulinemic hypoglycemia

T2 - It is a characteristic complication of sotos syndrome

AU - Nakamura, Yoshie

AU - Takagi, Masaki

AU - Yoshihashi, Hiroshi

AU - Miura, Masaru

AU - Narumi, Satoshi

AU - Hasegawa, Tomonobu

AU - Miyake, Yoshishige

AU - Hasegawa, Yukihiro

PY - 2015/5/1

Y1 - 2015/5/1

N2 - 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 hypoglycemia (HIH) in the neonatal period. We report on an additional patient of SoS, who presented transient HIH in the neonatal period. All of this patient and previous patients have microdeletions at the 5q35 chromosome. Therefore, we examined the following three in considering the possibility that other factor than NSD1 caused HIH. 1) This patient had no mutation of four currently known HIH related genes, ABCC8, KCNJ11, GLUD1, and GCK. 2) He had no further deletion than commonly observed region encompassing NSD1 by comparative genomic hybridization to DNA microarrays. 3) He had no mutation in the 5q35 region in the non-deleted chromosome using exsome sequence analysis. In conclusion, our patient supported that HIH could be one of the characteristic symptoms of SoS in the neonatal period, and could be useful for early diagnosis.

AB - 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 hypoglycemia (HIH) in the neonatal period. We report on an additional patient of SoS, who presented transient HIH in the neonatal period. All of this patient and previous patients have microdeletions at the 5q35 chromosome. Therefore, we examined the following three in considering the possibility that other factor than NSD1 caused HIH. 1) This patient had no mutation of four currently known HIH related genes, ABCC8, KCNJ11, GLUD1, and GCK. 2) He had no further deletion than commonly observed region encompassing NSD1 by comparative genomic hybridization to DNA microarrays. 3) He had no mutation in the 5q35 region in the non-deleted chromosome using exsome sequence analysis. In conclusion, our patient supported that HIH could be one of the characteristic symptoms of SoS in the neonatal period, and could be useful for early diagnosis.

KW - Hyperinsulinemic hypoglycemia

KW - Sotos syndrome

UR - http://www.scopus.com/inward/record.url?scp=84927912865&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84927912865&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.36996

DO - 10.1002/ajmg.a.36996

M3 - Article

C2 - 25712828

AN - SCOPUS:84927912865

VL - 167

SP - 1171

EP - 1174

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

SN - 1552-4868

IS - 5

ER -