Molecular analysis in a Turkish patient with severe form of hurler syndrome: Identification of a novel c.826-828del3 mutation
Küçük Resim Yok
Tarih
2010
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease due to mutations in the gene encoding alpha-L-iduronidase (IDUA) leading to variable clinical phenotypes with progressive severe organomegaly, bone and neurological involvement in the most severe forms. A two-year-old Turkish patient born from consanguineous marriage had an enzymatic and urinary diagnostics suggested a MPS I phenotype. The genetic evaluation revealed c.826-828del3 mutation in the homozygous state, whereas her parents were heterozygous for this mutation. Because of the high frequency of consanguineous marriages in Turkey, identification of the novel mutations permits reliable genetic counseling of at-risk relatives and molecular prenatal diagnosis.
Açıklama
Anahtar Kelimeler
Mucopolysaccharidosis I, Mutation
Kaynak
Erciyes Tip Dergisi
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
32
Sayı
1
