Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31 |
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Authors: | Isozumi K; DeLong R; Kaplan J; Deng HX; Iqbal Z; Hung WY; Wilhelmsen KC; Hentati A; Pericak-Vance MA; Siddique T |
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Institution: | Department of Neurology, Northwestern University Medical School, Chicago, IL 60611, USA. |
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Abstract: | Scapuloperoneal (SP) syndromes are heterogeneous neuromuscular disorders
which are characterized by weakness in the distribution of shoulder girdle
and peroneal muscles. SP syndromes can resemble facioscapulohumeral
muscular dystrophy (FSH) due to scapular weakness or Charcot-Marie-Tooth
disease (CMT) due to atrophy of peroneal muscles. Both neurogenic and
myopathic SP syndromes have been described. Locus for the myopathic form of
SP syndrome (scapuloperoneal muscular dystrophy, SPMD) has recently been
assigned to chromosome 12q. We previously described a large New England
kindred exhibiting an autosomal dominant neurogenic SP syndrome
(scapuloperoneal spinal muscular atrophy, SPSMA). Disease expression was
more severe and progressive in successive generations, which suggested
genetic anticipation. We performed genetic linkage analysis of this family
with microsatellite markers and excluded the loci for FSH, CMT, SPMD and
SMA (spinal muscular atrophy) in our family. Linkage in our SPSMA family
(lod score > 3) was established to seven microsatellite markers that map
to chromosome 12q24.1-q24.31. The highest lod score with two-point linkage
analysis was 6.67 (theta = 0.00) with marker D12S353. Multipoint analysis
gave maximum lod scores of 7.38 between D12S354 and D12S79, and also 7.38
between D12S369 and NOS1 (neuronal nitric oxide synthase). The gene for
SPSMA lies within the 19 cM interval between D12S338 and D12S366. This
report establishes a locus for the neurogenic form of SP syndrome
approximately 20 cM telomeric to the one described for the myopathic form
of SP syndrome.
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