LMNA (Lamin A/C) Gene Mutation Analysis
Emery-Dreifuss Muscular Dystrophy (Autosomal)
Limb-Girdle Muscular Dystrophy (Type 1B)
Dilated Cardiomyopathy
Charcot-Marie-Tooth Neuropathy Type 2
Familial Partial Lipodystrophy, Dunnigan Type
Hutchinson-Gilford Progeria Syndrome
Atypical Werner Syndrome
Mandibuloacral Dysplasia

Germline mutations in the LMNA gene encoding lamins A and C have been found in patients with Emery- Dreifuss muscular dystrophy (autosomal dominant, autosomal recessive, and sporadic forms of the disease ^1~4 in limb-girdle muscular dystrophy (Type 1B)⁵, in Charcot-Marie-Tooth disorder type 2⁶, and in Dunnigan type familial partial lipodystrophy⁷. Mutations in the LMNA gene have also been detected in patients with Hutchinson-Gilford progeria syndrome ^{8, 9}, atypical Werner syndrome¹⁰, and mandibuloacral dysplasia. Mutations in this gene also have been reported to cause familial dilated cardiomyopathy, a genetically heterogeneous disease caused by perhaps as many as eleven different genes, only a few of which have been identified ^{11, 12}. Identification of lamin A/C gene mutations in patients with any of these diseases may permit identification of carriers as well as individuals who are at high risk for dilated cardiomyopathy in these families.

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Lamin A/C (LMNA) Gene Mutation Analysis Assay Summary
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References
1. LeBonne, G. et al. (1999) Nat. Genet. 21: 285-288.
2. Genschel, J. and Schmidt, H.H.-J. (2000) Hum. Mut. 16: 451-459.
3. DiBarletta, M.R. et al. (2000) Am.J.Hum.Genet. 66: 1407-1412.
4. Brown, C.A. et al. (2001) Am. J. Med. Genet. 102: 359-367.
5. Muchir, A. et al. (2000). Hum. Molec. Genet. 9: 1453-1459.
6. De Sandre-Giovannoli, A. et al. (2002) Am. J. Hum. Genet. 70:726-736.
7. Shackleton, S. et al. (2000) Nat. Genet. 24:153-156.
8. Eriksson, M. et al. (2003) Nature 423:293-298.
9.Goldman, R.D. et al. (2004) Proc. Nat. Acad. Sci. USA 101:8963-8968.
10. Csoka, A.B. et al. (2004) J. Med. Genet. 41:304-308.
11. Fatkin, D. et al. (1999). N. Engl. J. Med. 341: 1715-1724.
12. Brodsky, G.L. et al. (2000). Circulation 101 473-476.

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