title: Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.
abstract: Microdeletion syndromes are commonly transmitted as dominant traits and are frequently associated with variably expressed pleiotropic phenotypes. Nonlethal homozygous microdeletions, on the other hand, are very rare. Here, we delineate the fifth and so far largest homozygous microdeletion in nonmalignancies of approximately 400 kb on chromosome 4q11-q12 in a large consanguineous East-Anatolian family with six affected patients. The deleted region contains the beta-sarcoglycan gene (SGCB), the predicted gene SPATA18 (spermatogenesis associated 18 homolog) and several expressed sequence tags. Patients presented with a severe and progressive Duchenne-like muscular dystrophy phenotype, a combination of hyperlaxity and joint contractures, chest pain, palpitations, and dyspnea.
authors.affiliation: Children's Hospital, Technical University, Dresden, Germany. angela.kaindl@charite.de
authors.forename: Angela M
authors.initials: AM
authors.lastname: Kaindl
authors.forename: Sibylle
authors.initials: S
authors.lastname: Jakubiczka
authors.forename: Thomas
authors.initials: T
authors.lastname: Lücke
authors.forename: Oliver
authors.initials: O
authors.lastname: Bartsch
authors.forename: Joachim
authors.initials: J
authors.lastname: Weis
authors.forename: Gisela
authors.initials: G
authors.lastname: Stoltenburg-Didinger
authors.forename: Fuat
authors.initials: F
authors.lastname: Aksu
authors.forename: Konrad
authors.initials: K
authors.lastname: Oexle
authors.forename: Katrin
authors.initials: K
authors.lastname: Koehler
authors.forename: Angela
authors.initials: A
authors.lastname: Huebner
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D003241:Consanguinity; D020224:Expressed Sequence Tags; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers; D006801:Humans; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D049031:Sarcoglycans / Q000235:genetics
chemical_list: D005819:Genetic Markers; D049031:Sarcoglycans