[Clinical and genetical features of Japanese early-onset facioscapulohumeral muscular dystrophy].
[Clinical and genetical features of Japanese early-onset facioscapulohumeral muscular dystrophy].
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日本早发性面肩肱型肌营养不良症的临床和遗传学特征
DOI：
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发表时间：
2002
期刊：
影响因子：
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通讯作者：
K. Arahata
中科院分区：
文献类型：
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作者：
G. Yamanaka;K. Goto;Y. Hayashi;T. Miyajima;A. Hoshika;K. Arahata
面肩肱骨肌营养不良症（FSHD）是一种常染色体显性的肌肉营养不良症，其特征是面部、肩带和上臂肌肉的进行性无力和萎缩。FSHD的基因位点定位于染色体4q35的亚端粒区域，通过Southern blot分析在大多数家族中检测到较小的EcoRI片段（10至33 kb）。本研究的目的是阐明日本4q35-FSHD患者早发性FSHD的频率和临床/遗传特征。在145个4q35-FSHD家族的231例患者中，29个家族（20%）中有31例（13.4%；男：女= 12:19）为早发性FSHD，其中16例为散发性。遗传分析显示，他们的EcoRI片段（范围10 ~ 23 kb，平均14.1 kb）明显小于其他患者（范围12 ~ 33 kb，平均19.6 kb） （p < 0.001， u检验）。所有EcoRI片段最小（10 ~ 11kb）的患者均为早期发病的散发病例。其中精神发育迟滞（10/11）和癫痫（4/11）多见，其他患者无。早发性FSHD中，舌肌受累（8/31）和吞咽障碍（2/31）也被认为是FSHD的排除标准。早发性FSHD患者的步态障碍发病时间明显早于另一组患者（平均年龄28.7岁）（平均年龄11.9岁）。所有早发性FSHD患者在28岁前均出现步态障碍。综上所述，日本早发性FSHD患者在4q35染色体上往往存在较大的基因缺失，且表型严重且多变。
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant form of muscular dystrophy characterized by progressive weakness and wasting of the facial, shoulder-girdle and upper arm muscles. The gene locus for FSHD is mapped to the subtelomeric region of chromosome 4q35, in which smaller EcoRI fragments (10 to 33 kb) are detected in most families by Southern blot analysis. The purpose of this study is to clarify the frequency and clinical/genetical features of early-onset FSHD in Japanese patients with 4q35-FSHD. In a series of 231 patients from 145 families with 4q35-FSHD, there were 31 patients (13.4%; male: female = 12:19) of 29 families (20%) with early-onset FSHD, 16 of whom were sporadic. Genetic analysis revealed that they had significantly smaller sized EcoRI fragments (range, 10 to 23 kb; mean 14.1 kb) than the other patients (range, 12 to 33 kb; mean 19.6 kb) (p < 0.001, U-test). All patients with the smallest EcoRI fragments (10 to 11 kb) were sporadic cases with early onset. Mental retardation (10/11) and epilepsy (4/11) was often observed in them, but not in the other patients. In early-onset FSHD, tongue muscle involvement (8/31) and swallowing disturbance (2/31), which has been regarded as exclusion criteria of FSHD, were also present. The onset of gait disturbance was significantly earlier (mean age = 11.9) in early-onset FSHD compared to the other group (mean age = 28.7). All patients with early-onset FSHD showed gait disturbance before 28 years of age. In conclusion, Japanese early-onset FSHD patients tend to have large gene deletions on chromosome 4q35, and show severe and variable phenotypes.