Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

Kyung Ran Jun, Reinhard Ullmann, Saadullah Khan, Lawrence C Layman, Hyung Goo Kim

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Results: We revisited a white female subject with a chromosome translocation, t(8;10)(p23;q23)mat and a 10q telomeric deletion suspected by G-banding 30 years ago. This female with severe intellectual disability, no speech, facial dysmorphism, intractable epilepsy, recurrent infection, and skeletal abnormalities has been observed from the birth until her death. The karyotype analysis reconfirmed the previously reported chromosome translocation with a revision as 46,XX,t(8;10)(p23.3;q23.2)mat by adding more detail in chromosomal sub-bands. The array comparative genomic hybridization, however, did not detect the 10q terminal deletion originally reported, but instead, revealed a 390 kb duplication at 2p11.2; 46,XX,t(8;10)(p23.3;q23.2)mat.arr[hg 19] p11.2(85469151×2,85474356- 85864257×3,85868355×2). This duplication region was confirmed by real-time quantitative PCR and real-time reverse transcriptase quantitative PCR.

Background: Copy number variations at 2p11.2 have been rare and to our knowledge, no abnormal phenotype with an interstitial 2p11.2 duplication has yet been reported. Here we report the first case with syndromic intellectual disability associated with microduplication at 2p11.2.

Conclusions: We suggest three positional candidate genes for intellectual disability and recurrent infection based upon gene function and data from real-time reverse transcriptase quantitative PCR - VAMP8 and RNF181 for intellectual disability and CAPG for recurrent infection.

Original languageEnglish (US)
Article number52
JournalMolecular Cytogenetics
Volume7
Issue number1
DOIs
StatePublished - Aug 19 2014

Fingerprint

RNA-Directed DNA Polymerase
Chromosomes
Intellectual Disability
Genes
Reverse Transcriptase Polymerase Chain Reaction
Real-Time Polymerase Chain Reaction
Infection
Comparative Genomic Hybridization
Karyotype
Parturition
Phenotype
Monosomy 10q Chromosome 10

Keywords

  • 2p11.2
  • Array CGH
  • CAPG
  • Copy number variation
  • Duplication
  • Intellectual disability
  • RNF181
  • Recurrent infection
  • VAMP8

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Biochemistry, medical

Cite this

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability : 30-year follow-up. / Jun, Kyung Ran; Ullmann, Reinhard; Khan, Saadullah; Layman, Lawrence C; Kim, Hyung Goo.

In: Molecular Cytogenetics, Vol. 7, No. 1, 52, 19.08.2014.

Research output: Contribution to journalArticle

@article{373325b6cde04d939a84859d9d5371c1,
title = "Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up",
abstract = "Results: We revisited a white female subject with a chromosome translocation, t(8;10)(p23;q23)mat and a 10q telomeric deletion suspected by G-banding 30 years ago. This female with severe intellectual disability, no speech, facial dysmorphism, intractable epilepsy, recurrent infection, and skeletal abnormalities has been observed from the birth until her death. The karyotype analysis reconfirmed the previously reported chromosome translocation with a revision as 46,XX,t(8;10)(p23.3;q23.2)mat by adding more detail in chromosomal sub-bands. The array comparative genomic hybridization, however, did not detect the 10q terminal deletion originally reported, but instead, revealed a 390 kb duplication at 2p11.2; 46,XX,t(8;10)(p23.3;q23.2)mat.arr[hg 19] p11.2(85469151×2,85474356- 85864257×3,85868355×2). This duplication region was confirmed by real-time quantitative PCR and real-time reverse transcriptase quantitative PCR.Background: Copy number variations at 2p11.2 have been rare and to our knowledge, no abnormal phenotype with an interstitial 2p11.2 duplication has yet been reported. Here we report the first case with syndromic intellectual disability associated with microduplication at 2p11.2.Conclusions: We suggest three positional candidate genes for intellectual disability and recurrent infection based upon gene function and data from real-time reverse transcriptase quantitative PCR - VAMP8 and RNF181 for intellectual disability and CAPG for recurrent infection.",
keywords = "2p11.2, Array CGH, CAPG, Copy number variation, Duplication, Intellectual disability, RNF181, Recurrent infection, VAMP8",
author = "Jun, {Kyung Ran} and Reinhard Ullmann and Saadullah Khan and Layman, {Lawrence C} and Kim, {Hyung Goo}",
year = "2014",
month = "8",
day = "19",
doi = "10.1186/1755-8166-7-52",
language = "English (US)",
volume = "7",
journal = "Molecular Cytogenetics",
issn = "1755-8166",
publisher = "BioMed Central",
number = "1",

}

TY - JOUR

T1 - Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability

T2 - 30-year follow-up

AU - Jun, Kyung Ran

AU - Ullmann, Reinhard

AU - Khan, Saadullah

AU - Layman, Lawrence C

AU - Kim, Hyung Goo

PY - 2014/8/19

Y1 - 2014/8/19

N2 - Results: We revisited a white female subject with a chromosome translocation, t(8;10)(p23;q23)mat and a 10q telomeric deletion suspected by G-banding 30 years ago. This female with severe intellectual disability, no speech, facial dysmorphism, intractable epilepsy, recurrent infection, and skeletal abnormalities has been observed from the birth until her death. The karyotype analysis reconfirmed the previously reported chromosome translocation with a revision as 46,XX,t(8;10)(p23.3;q23.2)mat by adding more detail in chromosomal sub-bands. The array comparative genomic hybridization, however, did not detect the 10q terminal deletion originally reported, but instead, revealed a 390 kb duplication at 2p11.2; 46,XX,t(8;10)(p23.3;q23.2)mat.arr[hg 19] p11.2(85469151×2,85474356- 85864257×3,85868355×2). This duplication region was confirmed by real-time quantitative PCR and real-time reverse transcriptase quantitative PCR.Background: Copy number variations at 2p11.2 have been rare and to our knowledge, no abnormal phenotype with an interstitial 2p11.2 duplication has yet been reported. Here we report the first case with syndromic intellectual disability associated with microduplication at 2p11.2.Conclusions: We suggest three positional candidate genes for intellectual disability and recurrent infection based upon gene function and data from real-time reverse transcriptase quantitative PCR - VAMP8 and RNF181 for intellectual disability and CAPG for recurrent infection.

AB - Results: We revisited a white female subject with a chromosome translocation, t(8;10)(p23;q23)mat and a 10q telomeric deletion suspected by G-banding 30 years ago. This female with severe intellectual disability, no speech, facial dysmorphism, intractable epilepsy, recurrent infection, and skeletal abnormalities has been observed from the birth until her death. The karyotype analysis reconfirmed the previously reported chromosome translocation with a revision as 46,XX,t(8;10)(p23.3;q23.2)mat by adding more detail in chromosomal sub-bands. The array comparative genomic hybridization, however, did not detect the 10q terminal deletion originally reported, but instead, revealed a 390 kb duplication at 2p11.2; 46,XX,t(8;10)(p23.3;q23.2)mat.arr[hg 19] p11.2(85469151×2,85474356- 85864257×3,85868355×2). This duplication region was confirmed by real-time quantitative PCR and real-time reverse transcriptase quantitative PCR.Background: Copy number variations at 2p11.2 have been rare and to our knowledge, no abnormal phenotype with an interstitial 2p11.2 duplication has yet been reported. Here we report the first case with syndromic intellectual disability associated with microduplication at 2p11.2.Conclusions: We suggest three positional candidate genes for intellectual disability and recurrent infection based upon gene function and data from real-time reverse transcriptase quantitative PCR - VAMP8 and RNF181 for intellectual disability and CAPG for recurrent infection.

KW - 2p11.2

KW - Array CGH

KW - CAPG

KW - Copy number variation

KW - Duplication

KW - Intellectual disability

KW - RNF181

KW - Recurrent infection

KW - VAMP8

UR - http://www.scopus.com/inward/record.url?scp=84907985186&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84907985186&partnerID=8YFLogxK

U2 - 10.1186/1755-8166-7-52

DO - 10.1186/1755-8166-7-52

M3 - Article

AN - SCOPUS:84907985186

VL - 7

JO - Molecular Cytogenetics

JF - Molecular Cytogenetics

SN - 1755-8166

IS - 1

M1 - 52

ER -