title: Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy.
abstract: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited muscular disorder, which is characterized by weakness of facial, shoulder and hip girdle, humeral, and anterior distal leg muscles. The FSHD gene has been mapped to 4q35 and a deletion of integral copies of a 3.3-kb DNA repeat motif named D4Z4 was known to be the genetic background of the disorder. Although FSHD is the second most common muscular dystrophy in adulthood, there were few reports on the genetically confirmed patients in Korea. Recently, we experienced four Korean patients with clinical features resembling FSHD. In order to confirm the diagnosis, conventional Southern blot (SB) analysis by using double digestion with EcoRI and BlnI and hybridization with p13E-11 probe was performed in three patients and newly developed long polymerase chain reaction (PCR) method was used for one patient because genomic DNA was not enough for conventional SB for this patient. All patients were demonstrated to have shortened D4Z4 repeats that were consistent with FSHD. Therefore, we could confirm the diagnosis of FSHD in four Korean patients and appropriate genetic counseling was done for the patients and their families. It is of note that long-PCR method could be a good alternative for conventional SB when D4Z4 repeats were less than 5.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Seung-Tae
authors.initials: ST
authors.lastname: Lee
authors.forename: Kyung-Sook
authors.initials: KS
authors.lastname: Kim
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Yoon-Ho
authors.initials: YH
authors.lastname: Hong
authors.forename: Jung-Joon
authors.initials: JJ
authors.lastname: Sung
authors.forename: Kyung Seok
authors.initials: KS
authors.lastname: Park
authors.forename: Kwang-Woo
authors.initials: KW
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005838:Genotype; D006801:Humans; D007723:Korea; D008297:Male; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion; D020080:Tandem Repeat Sequences