Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.
Dysferlin protein (DYSF) is a ferlin family member found in sarcolemma and is involved in membrane repair, muscle differentiation, membrane fusion, etc. The deficiency of DYSF due to mutations is associated with different pathologic phenotypes including the autosomal recessive limb-girdle type 2B phenotype (LGMD2B), a distal anterior compartment myopathy (DMAT), and the Miyoshi myopathy (MM). In this study, we determined a missense mutation c.4253G>A on the DYSF gene in a Mexican family from an endogamic population. This mutation was assumed to be the cause of dystrophy because only homozygous individuals of the family manifest a clinical phenotype. Structural implications caused by G/D substitution at amino acid position 1418 are discussed in terms of potential importance of the dysferlin neighboring sequence.
Rosas-Vargas
H
H
Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría, Centro Médico Nacional Siglo XXI-IMSS, México.
Gómez-Díaz
B
B
Ruano-Calderón
L
L
Fernández-Valverde
F
F
Roque-Ramírez
B
B
Portillo-Bobadilla
T
T
Ordoñez-Razo
R M
RM
Minauro-Sanmiguel
F
F
Coral-Vázquez
R
R
D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D000073939:Dysferlin; D005260:Female; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008800:Mexico; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000737:chemistry / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins