Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH

Microcephaly, developmental delay and delayed bone age

Han Zhang, Xianglan Lu, Julie Beasley, John J. Mulvihill, Ruizhi Liu, Shibo Li, Ji-Yun Lee

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors. Here, we report on a 14-month-old boy with a reverse phenotype of Sotos syndrome due to the reciprocal duplication of the 5q35.3 region, including the NSD1 gene, detected by array CGH. The phenotype includes delayed bone age, microcephaly, seizures, and failure to thrive. Our case suggests that the gene dosage effect of the NSD1 gene is the likely cause for the reversed phenotype of Sotos syndrome in this patient.

Original languageEnglish
Pages (from-to)1374-1378
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number6
DOIs
Publication statusPublished - 2011 Jun 1
Externally publishedYes

Fingerprint

Sotos Syndrome
Microcephaly
Phenotype
Bone and Bones
Genes
Haploinsufficiency
Failure to Thrive
Gene Dosage
Learning Disorders
Foot
Seizures
Hand
Mutation
Neoplasms

Keywords

  • 5q35
  • Array CGH
  • Duplication
  • FISH
  • NSD1
  • Sotos syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH : Microcephaly, developmental delay and delayed bone age. / Zhang, Han; Lu, Xianglan; Beasley, Julie; Mulvihill, John J.; Liu, Ruizhi; Li, Shibo; Lee, Ji-Yun.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 6, 01.06.2011, p. 1374-1378.

Research output: Contribution to journalArticle

@article{77df9dcb1da94af495bac6f3cf7ed1b5,
title = "Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age",
abstract = "Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors. Here, we report on a 14-month-old boy with a reverse phenotype of Sotos syndrome due to the reciprocal duplication of the 5q35.3 region, including the NSD1 gene, detected by array CGH. The phenotype includes delayed bone age, microcephaly, seizures, and failure to thrive. Our case suggests that the gene dosage effect of the NSD1 gene is the likely cause for the reversed phenotype of Sotos syndrome in this patient.",
keywords = "5q35, Array CGH, Duplication, FISH, NSD1, Sotos syndrome",
author = "Han Zhang and Xianglan Lu and Julie Beasley and Mulvihill, {John J.} and Ruizhi Liu and Shibo Li and Ji-Yun Lee",
year = "2011",
month = "6",
day = "1",
doi = "10.1002/ajmg.a.33769",
language = "English",
volume = "155",
pages = "1374--1378",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "6",

}

TY - JOUR

T1 - Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH

T2 - Microcephaly, developmental delay and delayed bone age

AU - Zhang, Han

AU - Lu, Xianglan

AU - Beasley, Julie

AU - Mulvihill, John J.

AU - Liu, Ruizhi

AU - Li, Shibo

AU - Lee, Ji-Yun

PY - 2011/6/1

Y1 - 2011/6/1

N2 - Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors. Here, we report on a 14-month-old boy with a reverse phenotype of Sotos syndrome due to the reciprocal duplication of the 5q35.3 region, including the NSD1 gene, detected by array CGH. The phenotype includes delayed bone age, microcephaly, seizures, and failure to thrive. Our case suggests that the gene dosage effect of the NSD1 gene is the likely cause for the reversed phenotype of Sotos syndrome in this patient.

AB - Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors. Here, we report on a 14-month-old boy with a reverse phenotype of Sotos syndrome due to the reciprocal duplication of the 5q35.3 region, including the NSD1 gene, detected by array CGH. The phenotype includes delayed bone age, microcephaly, seizures, and failure to thrive. Our case suggests that the gene dosage effect of the NSD1 gene is the likely cause for the reversed phenotype of Sotos syndrome in this patient.

KW - 5q35

KW - Array CGH

KW - Duplication

KW - FISH

KW - NSD1

KW - Sotos syndrome

UR - http://www.scopus.com/inward/record.url?scp=79956223037&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79956223037&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.33769

DO - 10.1002/ajmg.a.33769

M3 - Article

VL - 155

SP - 1374

EP - 1378

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 6

ER -