RGD Reference Report - Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. - Rat Genome Database

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

Authors: Bonne, G  Di Barletta, M R  Varnous, S  Bécane, H M  Hammouda, E H  Merlini, L  Muntoni, F  Greenberg, C R  Gary, F  Urtizberea, J A  Duboc, D  Fardeau, M  Toniolo, D  Schwartz, K 
Citation: Bonne G, etal., Nat Genet. 1999 Mar;21(3):285-8.
RGD ID: 12791020
Pubmed: PMID:10080180   (View Abstract at PubMed)
DOI: DOI:10.1038/6799   (Journal Full-text)

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening. Two modes of inheritance exist, X-linked (OMIM 310300) and autosomal dominant (EDMD-AD; OMIM 181350). EDMD-AD is clinically identical to the X-linked forms of the disease. Mutations in EMD, the gene encoding emerin, are responsible for the X-linked form. We have mapped the locus for EDMD-AD to an 8-cM interval on chromosome 1q11-q23 in a large French pedigree, and found that the EMD phenotype in four other small families was potentially linked to this locus. This region contains the lamin A/C gene (LMNA), a candidate gene encoding two proteins of the nuclear lamina, lamins A and C, produced by alternative splicing. We identified four mutations in LMNA that co-segregate with the disease phenotype in the five families: one nonsense mutation and three missense mutations. These results are the first identification of mutations in a component of the nuclear lamina as a cause of inherited muscle disorder. Together with mutations in EMD (refs 5,6), they underscore the potential importance of the nuclear envelope components in the pathogenesis of neuromuscular disorders.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autosomal dominant Emery-Dreifuss muscular dystrophy 2  IAGP 12791020DNA:missense mutations and nonsense mutation:cds:multiple (human)RGD 
autosomal dominant Emery-Dreifuss muscular dystrophy 2  ISOLMNA (Homo sapiens)12791020; 12791020DNA:missense mutations and nonsense mutation:cds:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Achilles tendon contracture  IAGP 12791020DNA:missense mutations and nonsense mutation:cds:multipleRGD 
Elbow flexion contracture  IAGP 12791020DNA:missense mutations and nonsense mutation:cds:multipleRGD 
Heart block  IAGP 12791020DNA:missense mutations and nonsense mutation:cds:multipleRGD 
Skeletal muscle atrophy  IAGP 12791020DNA:missense mutations and nonsense mutation:cds:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Lmna  (lamin A/C)

Genes (Mus musculus)
Lmna  (lamin A)

Genes (Homo sapiens)
LMNA  (lamin A/C)


Additional Information