期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 82, 期 1, 页码 208-213出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2007.09.013
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资金
- NIAMS NIH HHS [R01 AR047989] Funding Source: Medline
- NINDS NIH HHS [P01 NS011766, NS11766] Funding Source: Medline
- Telethon [GFP03009] Funding Source: Medline
- NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES [R01AR047989] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [P01NS011766, P50NS011766] Funding Source: NIH RePORTER
Scapuloperoneal (SP) syndrome encompasses heterogeneous neuromuscular disorders characterized by weakness in the shoulder-girdle and peroneal muscles. In a large Italian-American pedigree with dominant SP myopathy (SPM) previously linked to chromosome 12q, we have mapped the disease to Xq26, and, in all of the affected individuals, we identified a missense change (c.36SG -> C) in the FHL1 gene encoding four-and-a-half-LIM protein 1 (THL1). The mutation substitutes a serine for a conserved trypophan at amino acid 122 in the second LIM domain of the protein. Western blot analyses of muscle extracts revealed FHL1 loss that paralleled disease severity. FHL1 and an isoform, FHL1C, are highly expressed in skeletal muscle and may contribute to stability of sarcomeres and sarcolemma, myofibrillary assembly, and transcriptional regulation. This is the first report, to our knowledge, of X-linked dominant SP myopathy and the first human mutation in FHL1.
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