Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

• Published in: Cell Vol. 78; no. 4; pp. 625 - 633
• Main Authors: Roberds, Steven L., Leturcq, France, Allamand, Valérie, Piccolo, Federica, Jeanpierre, Marc, Anderson, Richard D., Lim, Leland E., Lee, Jane C., Tomé, Fernando M.S., Romero, Norma B., Fardeau, Michel, Beckmann, Jacques S., Kaplan, Jean-Claude, Campbell, Kevin P.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 26.08.1994
• Subjects: Amino Acid Sequence; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 17; Cloning, Molecular; Cytoskeletal Proteins - genetics; DNA, Complementary - genetics; Genes, Recessive; Genetic Linkage; Humans; Introns - genetics; Membrane Glycoproteins - genetics; Molecular Sequence Data; Muscular Dystrophies - genetics; Organ Specificity; Pedigree; Point Mutation - genetics; RNA, Messenger - analysis; Sarcoglycans; Sequence Analysis, DNA; Transcription, Genetic
• ISSN: 0092-8674; 1097-4172
• DOI: 10.1016/0092-8674(94)90527-4

Adhalin, the 50 kDa dystrophn-associated glycoprotein, is deficient in skeletal muscle of patients having severe childhood autosomal recessive muscular dystrophy (SCARMD). In several North African families, SCARMD has been linked to chromosome 13q, but SCARMD has been excluded from linkage to this locus in other families. We have now cloned human adhalin cDNA and mapped the adhalin gene to chromosome 17q12-q21.33, excluding it from involvement in 13q-linked SCARMD. However, one allelic variant of a polymorphic microsatellite located within intron 6 of the adhalin gene cosegregated perfectly with the disease phenotype in a large family. Furthermore, missense mutations were identified within the adhalin gene that might cause SCARMD in this family. Thus, the adhalin gene is involved in at least one form of autosomal recessive muscular dystrophy.