Mutation analysis of Jewish hunter patients in Israel

E. Ben Simon‐Schiff; G. Bach; J. J. Hopwood; D. Abeliovich

doi:10.1002/humu.1380040406

Mutation analysis of Jewish hunter patients in Israel

E. Ben Simon‐Schiff, G. Bach, J. J. Hopwood, D. Abeliovich

Hopwood Centre For Neurobiology

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

Abstract

We have performed molecular and mutation analyses on 14 unrelated Israeli Hunter families and have identified the IDS mutation in 8 of them. Three unrelated Ashkenazi patients had the same previously reported mutation (1246 C→T). Based on the haplotypes of the mutation‐bearing chromosomes, we concluded that this is a recurrent mutation. In two patients, we identified a deletion spanning exons V–VII. Three novel mutations were observed in different patients: L410P, 717del4, and 244del3. In addition, the silent mutation (562 C→T) was observed in one patient. © 1994 Wiley‐Liss, Inc.

Original language	English
Pages (from-to)	263-270
Number of pages	8
Journal	Human mutation
Volume	4
Issue number	4
DOIs	https://doi.org/10.1002/humu.1380040406
Publication status	Published or Issued - 1994

Keywords

IDS mutations
MPS II
Recurrent mutation

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/humu.1380040406

Cite this

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title = "Mutation analysis of Jewish hunter patients in Israel",

abstract = "We have performed molecular and mutation analyses on 14 unrelated Israeli Hunter families and have identified the IDS mutation in 8 of them. Three unrelated Ashkenazi patients had the same previously reported mutation (1246 C→T). Based on the haplotypes of the mutation‐bearing chromosomes, we concluded that this is a recurrent mutation. In two patients, we identified a deletion spanning exons V–VII. Three novel mutations were observed in different patients: L410P, 717del4, and 244del3. In addition, the silent mutation (562 C→T) was observed in one patient. {\textcopyright} 1994 Wiley‐Liss, Inc.",

keywords = "IDS mutations, MPS II, Recurrent mutation",

author = "Simon‐Schiff, {E. Ben} and G. Bach and Hopwood, {J. J.} and D. Abeliovich",

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doi = "10.1002/humu.1380040406",

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volume = "4",

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journal = "Human mutation",

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T1 - Mutation analysis of Jewish hunter patients in Israel

AU - Simon‐Schiff, E. Ben

AU - Bach, G.

AU - Hopwood, J. J.

AU - Abeliovich, D.

PY - 1994

Y1 - 1994

N2 - We have performed molecular and mutation analyses on 14 unrelated Israeli Hunter families and have identified the IDS mutation in 8 of them. Three unrelated Ashkenazi patients had the same previously reported mutation (1246 C→T). Based on the haplotypes of the mutation‐bearing chromosomes, we concluded that this is a recurrent mutation. In two patients, we identified a deletion spanning exons V–VII. Three novel mutations were observed in different patients: L410P, 717del4, and 244del3. In addition, the silent mutation (562 C→T) was observed in one patient. © 1994 Wiley‐Liss, Inc.

AB - We have performed molecular and mutation analyses on 14 unrelated Israeli Hunter families and have identified the IDS mutation in 8 of them. Three unrelated Ashkenazi patients had the same previously reported mutation (1246 C→T). Based on the haplotypes of the mutation‐bearing chromosomes, we concluded that this is a recurrent mutation. In two patients, we identified a deletion spanning exons V–VII. Three novel mutations were observed in different patients: L410P, 717del4, and 244del3. In addition, the silent mutation (562 C→T) was observed in one patient. © 1994 Wiley‐Liss, Inc.

KW - IDS mutations

KW - MPS II

KW - Recurrent mutation

UR - http://www.scopus.com/inward/record.url?scp=0028109431&partnerID=8YFLogxK

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DO - 10.1002/humu.1380040406

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AN - SCOPUS:0028109431

SN - 1059-7794

VL - 4

SP - 263

EP - 270

JO - Human mutation

JF - Human mutation

IS - 4

ER -

Mutation analysis of Jewish hunter patients in Israel

Abstract

Keywords

ASJC Scopus subject areas

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