Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation

Kazuo Isozumi; Robert DeLong; Jocelyn Kaplan; Wu Yen Hung; Teepu Siddique

doi:10.1007/s004390050435

Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation

Kazuo Isozumi, Robert DeLong, Jocelyn Kaplan, Wu Yen Hung, Teepu Siddique^*

^*Corresponding author for this work

Neurology

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

3 Scopus citations

Abstract

Scapuloperoneal spinal muscular atrophy (SPSMA) is a neuromuscular disorder characterized by weakness in the distribution of shoulder girdle and peroneal muscles. We have previously described a large New England kindred with autosomal dominant SPSMA and have subsequently linked this family trait to 12q24.1-q24.31. In this family, disease expression becomes more severe and progressive in successive generations, suggesting genetic anticipation. Accordingly, we have investigated the thirteen known CAG/CTG repeat loci on chromosome 12 that could be tested by using the polymerase chain reaction as candidate genetic mutations in SPSMA. None of these loci is expanded.

Original language	English (US)
Pages (from-to)	701-703
Number of pages	3
Journal	Human Genetics
Volume	99
Issue number	6
DOIs	https://doi.org/10.1007/s004390050435
State	Published - Jun 1997

Funding

Acknowledgments We thank Dr. Peter Riegman for his scientific advice on CAG40, and Dr. Gang Deng, Wenjie Chen, and Daniel Heintz for their technical assistance. This work was supported by National Institutes of Health (T. S.), Les Turner ALS Foundation (T. S.), the Muscular Dystrophy Association of America (T. S.), and Keio-Northwestern Academic Exchange Program (K. I.).

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation",

abstract = "Scapuloperoneal spinal muscular atrophy (SPSMA) is a neuromuscular disorder characterized by weakness in the distribution of shoulder girdle and peroneal muscles. We have previously described a large New England kindred with autosomal dominant SPSMA and have subsequently linked this family trait to 12q24.1-q24.31. In this family, disease expression becomes more severe and progressive in successive generations, suggesting genetic anticipation. Accordingly, we have investigated the thirteen known CAG/CTG repeat loci on chromosome 12 that could be tested by using the polymerase chain reaction as candidate genetic mutations in SPSMA. None of these loci is expanded.",

author = "Kazuo Isozumi and Robert DeLong and Jocelyn Kaplan and Hung, \{Wu Yen\} and Teepu Siddique",

note = "Funding Information: Acknowledgments We thank Dr. Peter Riegman for his scientific advice on CAG40, and Dr. Gang Deng, Wenjie Chen, and Daniel Heintz for their technical assistance. This work was supported by National Institutes of Health (T. S.), Les Turner ALS Foundation (T. S.), the Muscular Dystrophy Association of America (T. S.), and Keio-Northwestern Academic Exchange Program (K. I.).",

year = "1997",

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doi = "10.1007/s004390050435",

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AU - Isozumi, Kazuo

AU - DeLong, Robert

AU - Kaplan, Jocelyn

AU - Hung, Wu Yen

AU - Siddique, Teepu

N1 - Funding Information: Acknowledgments We thank Dr. Peter Riegman for his scientific advice on CAG40, and Dr. Gang Deng, Wenjie Chen, and Daniel Heintz for their technical assistance. This work was supported by National Institutes of Health (T. S.), Les Turner ALS Foundation (T. S.), the Muscular Dystrophy Association of America (T. S.), and Keio-Northwestern Academic Exchange Program (K. I.).

PY - 1997/6

Y1 - 1997/6

N2 - Scapuloperoneal spinal muscular atrophy (SPSMA) is a neuromuscular disorder characterized by weakness in the distribution of shoulder girdle and peroneal muscles. We have previously described a large New England kindred with autosomal dominant SPSMA and have subsequently linked this family trait to 12q24.1-q24.31. In this family, disease expression becomes more severe and progressive in successive generations, suggesting genetic anticipation. Accordingly, we have investigated the thirteen known CAG/CTG repeat loci on chromosome 12 that could be tested by using the polymerase chain reaction as candidate genetic mutations in SPSMA. None of these loci is expanded.

AB - Scapuloperoneal spinal muscular atrophy (SPSMA) is a neuromuscular disorder characterized by weakness in the distribution of shoulder girdle and peroneal muscles. We have previously described a large New England kindred with autosomal dominant SPSMA and have subsequently linked this family trait to 12q24.1-q24.31. In this family, disease expression becomes more severe and progressive in successive generations, suggesting genetic anticipation. Accordingly, we have investigated the thirteen known CAG/CTG repeat loci on chromosome 12 that could be tested by using the polymerase chain reaction as candidate genetic mutations in SPSMA. None of these loci is expanded.

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Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation

Abstract

Funding

ASJC Scopus subject areas

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