Prenatal prediction of spinal muscular atrophy
Prenatal prediction of spinal muscular atrophy
Spinal muscular atrophy (SMA) is a common cause of inherited morbidity and mortality in childhood. The wide range of phenotypes in SMA, uncertainty regarding its mode of inheritance, and the suggestion of linkage heterogeneity have complicated the genetic counselling of parents of affected children. The locus responsible for autosomal recessive SMA has been mapped to 5q11.2-q13.3. The most likely order of loci is cen-D5S6-(SMA,D5S125)-(JK53CA1/2,D5S112)-D5S3 9-qter, with highly polymorphic loci being identified at JK53CA1/2 and D5S39. We describe linkage studies with another highly polymorphic locus, D5S127, that is closely linked to D5S39. This genetic map can be used as the basis for genetic counselling in families with autosomal recessive SMA. Appropriate allowance can be made for sporadic cases owing to non-inherited causes and for linkage heterogeneity or misdiagnoses.
165-170
Daniels, R.J.
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Suthers, G.K.
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Morrison, K.E.
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Thomas, N.H.
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Francis, M.J.
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Mathew, C.G.
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Loughlin, S.
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Heiberg, A.
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Wood, D.
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Dubowitz, V.
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March 1992
Daniels, R.J.
694c1503-8241-466e-8800-6adc0c5fc3b0
Suthers, G.K.
1bb368eb-9121-420c-96b1-0582a0a20222
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Thomas, N.H.
1658bfd3-833a-4491-907f-95cefa97306c
Francis, M.J.
c207e79b-ef95-487e-895a-3d2d0476d6a5
Mathew, C.G.
ebc9a9cf-8b36-461e-90de-93ac1d5ec20d
Loughlin, S.
bfd68503-abf8-48ac-ae2a-6154bc54fbc1
Heiberg, A.
29700da1-32f5-4888-a9d9-dfea7a8886ad
Wood, D.
fbe5ea53-e906-40e1-a76b-b4934ae38fe7
Dubowitz, V.
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Daniels, R.J., Suthers, G.K., Morrison, K.E., Thomas, N.H., Francis, M.J., Mathew, C.G., Loughlin, S., Heiberg, A., Wood, D. and Dubowitz, V.
(1992)
Prenatal prediction of spinal muscular atrophy.
Journal of Medical Genetics, 29 (3), .
(PMID:1348091)
Abstract
Spinal muscular atrophy (SMA) is a common cause of inherited morbidity and mortality in childhood. The wide range of phenotypes in SMA, uncertainty regarding its mode of inheritance, and the suggestion of linkage heterogeneity have complicated the genetic counselling of parents of affected children. The locus responsible for autosomal recessive SMA has been mapped to 5q11.2-q13.3. The most likely order of loci is cen-D5S6-(SMA,D5S125)-(JK53CA1/2,D5S112)-D5S3 9-qter, with highly polymorphic loci being identified at JK53CA1/2 and D5S39. We describe linkage studies with another highly polymorphic locus, D5S127, that is closely linked to D5S39. This genetic map can be used as the basis for genetic counselling in families with autosomal recessive SMA. Appropriate allowance can be made for sporadic cases owing to non-inherited causes and for linkage heterogeneity or misdiagnoses.
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Published date: March 1992
Organisations:
Medical Education
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Local EPrints ID: 399561
URI: http://eprints.soton.ac.uk/id/eprint/399561
ISSN: 0022-2593
PURE UUID: de307a1a-6b52-4ab2-a824-196eab4819c5
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Date deposited: 18 Aug 2016 13:37
Last modified: 18 Oct 2022 16:36
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Contributors
Author:
R.J. Daniels
Author:
G.K. Suthers
Author:
K.E. Morrison
Author:
N.H. Thomas
Author:
M.J. Francis
Author:
C.G. Mathew
Author:
S. Loughlin
Author:
A. Heiberg
Author:
D. Wood
Author:
V. Dubowitz
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