Population-specific and founder mutations

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Population studied: Libyan Jewish
Patients analyzed: 29 patients from 12 families
Specific mutation(s):

Original numbering: 1624delG (single base deletion at codon 1624)
New numbering:  Nucleotide change: 4872delG fsX9
Protein change: Glu1624Asp

Carrier frequency: 10% of Libyan Jews

Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Mitrani-Rosenbaum S, Richard I, Beckmann J, Keers S, Bashir R, Bushby K, Rosenmann H. 2000. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. Brain 123(6):1229-37.

Population studied: Spanish (town of Sueca, Spain)
Patients analyzed: 8 patients from 5 families
Specific mutation(s): Nucleotide change: C6086T
Protein change: R1905X
Carrier frequency: 2% of Sueca residents
Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-Garcia R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I. 2005. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol 62(8):1256-9.
Population studied: Italian
Patients analyzed: 3 patients from 2 families
Specific mutation(s):  Nucleotide change: C2875T
 Protein change: R959W
Carrier frequency: unknown
Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia MC, Sironi M, D'Angelo MG, Prelle A, Locatelli F, Toscano A, Bresolin N, Comi GP. 2003. Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Neuromuscul Disord 13(10):788-95.
Population studied: Aboriginal Canadian
Patients analyzed: 14 patients from 3 families
Specific mutation(s): Nucleotide change: C2745G
Protein change: P791R
Carrier frequency: unknown
Weiler T, Bashir R, Anderson LVB, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg CR, Bushby KMD, Wrogemann K. 1999. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 8(5):871-7.
Population studied: Palestinian
Patients analyzed: 10 patients from 1 family
Specific mutation(s): 23 bp insertion (tandem duplication) at the 3’ end of exon 45
Carrier frequency: unknown
Mahjneh I, Marconi G, Bushby K, Anderson LV, Tolvanen-Mahjneh H, Somer H. 2001. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromuscul Disord 11(1):20-6.
Population studied: Russian
Patients analyzed: 9 patients from 1 family
Specific mutation(s): Nucleotide change: TG573/574AT
Protein change: V69D
Carrier frequency: unknown
Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, Nylen E, Sukhorukov VS, Poleshchuk VV, Markova ED, Wrogemann K. 2000. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 55(12):1931-3.