-Mutations in Hunter patients from Argentina

CECI, R; GULAYIN A; ROZENFELD PA

Salvador de Bahia, Brasil

Congreso; II Congreso Latinoamericano de Enfermedades Lisosomales; 2008

Shire HGT

MUTATIONS IN HUNTER PATIENTS FROM ARGENTINA   CECI R, GULAYIN A, ROZENFELD P LISIN, Universidad Nacional de La Plata. Argentina   INTRODUCCION: Hunter disease is diagnosed by the decreased levels of iduronate sulfatase (IDS) activity. In males, enzymatic activity determination in blood is reliable, although in heterozygous females, is often inconclusive. Only, identification of a mutation in IDS gene provides the precise heterozygote identification. AIM: To describe mutations found in 7 unrelated families with Hunter disease from Argentina. METHODS: Blood samples were collected in filter paper. Filter papers were cut, washed and air-dried, and used as a template for PCR amplification of the 9 exons and adjacent intron-exon boundaries of IDS gene. After purification of the amplicons, sequencing was carried out. RESULTS: We identified 5 missense mutations and 2 splicing mutations. Three families with missense mutations presented the common mutation R468Q in exon 9. The other missense mutations were found in exon 3 and 5. Regarding the splicing mutations, one was found in coding region of exon 8 and the other in the intron 4. CONCLUSIONS: After identification of the mutation in the index case, we could offer the genetic test to 27 female relatives from the 7 families, resulting in the identification of 14 heterozygotes.