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: Angela M Kaindl, Sibylle Jakubiczka, Thomas Lücke, Oliver Bartsch, Joachim Weis, Gisela Stoltenburg-Didinger, Fuat Aksu, Konrad Oexle, Katrin Koehler, Angela Huebner
• Journal: Human mutation (Hum Mutat) Vol. 26 Issue 3 Pg. 279-80 (Sep 2005) ISSN: 1098-1004 [Electronic] United States
• PMID: 16088906 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Genetic Markers
• Sarcoglycans

Topics

• Adolescent
• Adult
• Child
• Chromosome Deletion
• Chromosomes, Human, Pair 4
• Consanguinity
• Expressed Sequence Tags
• Female
• Gene Deletion
• Genetic Markers
• Humans
• Male
• Muscular Dystrophies, Limb-Girdle (genetics)
• Pedigree
• Phenotype
• Sarcoglycans (genetics)