TY - JOUR
T1 - Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31
AU - Isozumi, Kazuo
AU - DeLong, Robert
AU - Kaplan, Jocelyn
AU - Deng, Han Xiang
AU - Iqbal, Zafar
AU - Hung, Wu Yen
AU - Wilhelmsen, Kirk C.
AU - Hentati, Afif
AU - Pericak-Vance, Margaret A.
AU - Siddique, Teepu
N1 - Funding Information:
We would like to thank Dr Rebecca Twells for his scientific advice on NOS1/ASCL1 PCR assay, and Dr Gang Deng, Tony Juneja, Janice Caliendo, Wenjie Chen and Daniel Heintz for their technical assistance. This work was supported by National Institutes of Health (TS), Les Turner ALS Foundation (TS), the Muscular Dystrophy Association of America (TS, ZI, MP-V), NINDS26630 (MP-V) and Keio-Northwestern Academic Exchange Program (KI).
PY - 1996/9
Y1 - 1996/9
N2 - 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 (led 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 (θ = 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 ~ 20 cM telomeric to the one described for the myopathic form of SP syndrome.
AB - 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 (led 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 (θ = 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 ~ 20 cM telomeric to the one described for the myopathic form of SP syndrome.
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U2 - 10.1093/hmg/5.9.1377
DO - 10.1093/hmg/5.9.1377
M3 - Article
C2 - 8872481
AN - SCOPUS:10144254432
VL - 5
SP - 1377
EP - 1382
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 9
ER -