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A novel mutation in two families with limb-girdle muscular dystrophy type 2C

From the Program in Genomics, the Howard Hughes Medical Institute (D.R.D., P.B.K., J.C.R., C.E.B., L.M.K.), Department of Neurology (P.B.K., B.T.D.), and Department of Pathology (H.G.W.L.), Children’s Hospital Boston and Harvard Medical School, Boston, MA.

Address correspondence and reprint requests to Dr. Louis M. Kunkel, Division of Genetics, Enders 561, Children’s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115; e-mail: kunkel{at}enders.tch.harvard.edu

The authors present three unrelated North American patients with limb-girdle muscular dystrophy type 2C. Muscle biopsies suggested -sarcoglycan deficiencies for all three patients. Patients 1 and 2 had a novel homozygous E263K missense mutation on exon 8 of -sarcoglycan (SGCG). Patient 3 had del521T on her maternal allele and an exon 6 deletion on her paternal allele. Patients 1 and 2 are of Puerto Rican ancestry, suggesting the presence of a founder mutation in that population.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the July 11 issue to find the title link for this article.

J.C.R. was a Summer Student, P.B.K. was a Research Associate, and L.M.K. is an Investigator at the Howard Hughes Medical Institute.

This work was also supported by NIH P01 NS40828-01A1 (L.M.K), K08 NS 048180 (P.B.K.), P 30 HD18655 (C.E.B. and DNA Sequencing Core Facility), the Bernard F. and Alva B. Gimbel Foundation (L.M.K), and the Joshua Frase Foundation (L.M.K).

Disclosure: The authors report no conflicts of interest.

This work was presented in part at the 10th Annual World Muscle Society Congress, Iguaçu Falls, Brazil, September 2005. There are no relevant financial conflicts.

Received November 11, 2005. Accepted in final form March 16, 2006.