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Three heterozygous USH2A mutations cosegregate with the disease in this consanguineous family. Patient II-4 carried two mutated alleles M2 (c.4325T>C) and M3 (c.7364G>A), whereas his affected son (III-2) inherited the M3 paternal allele plus the reported M1 (c.2167+5G>A) mutation from his mother.
