Genetic analysis of digeorge syndrome and related disorders

Hiroki Kurahashi, Tsutomu Nakamura, Johji Inazawa, Norio Ntikawa, Shintarn Okada, Tsamu Nishtsho

Research output: Contribution to journalArticle

Abstract

Since patients with DiGeorge syndrome (DGS) commonly have deletions of 22q11.2, haploinsufficiency of a certain gene(s) in this region is thought to cause the syndrome. The deletion is also seen in patients with other syndromes with cardiac anomaly and facial dysmorphism, suggesting that the syndromes are contiguous gene syndromes. We constructed two cosmid contigs in the deletion, which contained region specific repetitive sequences. The deletion map of the patients allowed us to identify three types of deletions. Most patients have apparently identical large interstitial deletions in spite of phenotypic variability, suggesting that at the breakpoint there exists a specific repetitive sequence prone to deletion. A unique deletion was identified, which did not contain the "shortest region of overlap". Subsequently, we isolated a novel cDNA located on one of the cosmid contigs. The cDNA was revealed to encode a transcriptional factor and to be expressed in vital fetal organs. Haploinsufficiency of the gene may be partly related to the development of the syndromes.

Original languageEnglish
Number of pages1
JournalJapanese Journal of Human Genetics
Volume41
Issue number1
Publication statusPublished - 01-12-1996
Externally publishedYes

Fingerprint

DiGeorge Syndrome
Haploinsufficiency
Cosmids
Nucleic Acid Repetitive Sequences
Complementary DNA
Genes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Kurahashi, H., Nakamura, T., Inazawa, J., Ntikawa, N., Okada, S., & Nishtsho, T. (1996). Genetic analysis of digeorge syndrome and related disorders. Japanese Journal of Human Genetics, 41(1).
Kurahashi, Hiroki ; Nakamura, Tsutomu ; Inazawa, Johji ; Ntikawa, Norio ; Okada, Shintarn ; Nishtsho, Tsamu. / Genetic analysis of digeorge syndrome and related disorders. In: Japanese Journal of Human Genetics. 1996 ; Vol. 41, No. 1.
@article{d8d39ed2726445a7a78347c8f8cb0280,
title = "Genetic analysis of digeorge syndrome and related disorders",
abstract = "Since patients with DiGeorge syndrome (DGS) commonly have deletions of 22q11.2, haploinsufficiency of a certain gene(s) in this region is thought to cause the syndrome. The deletion is also seen in patients with other syndromes with cardiac anomaly and facial dysmorphism, suggesting that the syndromes are contiguous gene syndromes. We constructed two cosmid contigs in the deletion, which contained region specific repetitive sequences. The deletion map of the patients allowed us to identify three types of deletions. Most patients have apparently identical large interstitial deletions in spite of phenotypic variability, suggesting that at the breakpoint there exists a specific repetitive sequence prone to deletion. A unique deletion was identified, which did not contain the {"}shortest region of overlap{"}. Subsequently, we isolated a novel cDNA located on one of the cosmid contigs. The cDNA was revealed to encode a transcriptional factor and to be expressed in vital fetal organs. Haploinsufficiency of the gene may be partly related to the development of the syndromes.",
author = "Hiroki Kurahashi and Tsutomu Nakamura and Johji Inazawa and Norio Ntikawa and Shintarn Okada and Tsamu Nishtsho",
year = "1996",
month = "12",
day = "1",
language = "English",
volume = "41",
journal = "Journal of Human Genetics",
issn = "1434-5161",
publisher = "Nature Publishing Group",
number = "1",

}

Kurahashi, H, Nakamura, T, Inazawa, J, Ntikawa, N, Okada, S & Nishtsho, T 1996, 'Genetic analysis of digeorge syndrome and related disorders', Japanese Journal of Human Genetics, vol. 41, no. 1.

Genetic analysis of digeorge syndrome and related disorders. / Kurahashi, Hiroki; Nakamura, Tsutomu; Inazawa, Johji; Ntikawa, Norio; Okada, Shintarn; Nishtsho, Tsamu.

In: Japanese Journal of Human Genetics, Vol. 41, No. 1, 01.12.1996.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Genetic analysis of digeorge syndrome and related disorders

AU - Kurahashi, Hiroki

AU - Nakamura, Tsutomu

AU - Inazawa, Johji

AU - Ntikawa, Norio

AU - Okada, Shintarn

AU - Nishtsho, Tsamu

PY - 1996/12/1

Y1 - 1996/12/1

N2 - Since patients with DiGeorge syndrome (DGS) commonly have deletions of 22q11.2, haploinsufficiency of a certain gene(s) in this region is thought to cause the syndrome. The deletion is also seen in patients with other syndromes with cardiac anomaly and facial dysmorphism, suggesting that the syndromes are contiguous gene syndromes. We constructed two cosmid contigs in the deletion, which contained region specific repetitive sequences. The deletion map of the patients allowed us to identify three types of deletions. Most patients have apparently identical large interstitial deletions in spite of phenotypic variability, suggesting that at the breakpoint there exists a specific repetitive sequence prone to deletion. A unique deletion was identified, which did not contain the "shortest region of overlap". Subsequently, we isolated a novel cDNA located on one of the cosmid contigs. The cDNA was revealed to encode a transcriptional factor and to be expressed in vital fetal organs. Haploinsufficiency of the gene may be partly related to the development of the syndromes.

AB - Since patients with DiGeorge syndrome (DGS) commonly have deletions of 22q11.2, haploinsufficiency of a certain gene(s) in this region is thought to cause the syndrome. The deletion is also seen in patients with other syndromes with cardiac anomaly and facial dysmorphism, suggesting that the syndromes are contiguous gene syndromes. We constructed two cosmid contigs in the deletion, which contained region specific repetitive sequences. The deletion map of the patients allowed us to identify three types of deletions. Most patients have apparently identical large interstitial deletions in spite of phenotypic variability, suggesting that at the breakpoint there exists a specific repetitive sequence prone to deletion. A unique deletion was identified, which did not contain the "shortest region of overlap". Subsequently, we isolated a novel cDNA located on one of the cosmid contigs. The cDNA was revealed to encode a transcriptional factor and to be expressed in vital fetal organs. Haploinsufficiency of the gene may be partly related to the development of the syndromes.

UR - http://www.scopus.com/inward/record.url?scp=33748157076&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748157076&partnerID=8YFLogxK

M3 - Article

VL - 41

JO - Journal of Human Genetics

JF - Journal of Human Genetics

SN - 1434-5161

IS - 1

ER -

Kurahashi H, Nakamura T, Inazawa J, Ntikawa N, Okada S, Nishtsho T. Genetic analysis of digeorge syndrome and related disorders. Japanese Journal of Human Genetics. 1996 Dec 1;41(1).