Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

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• 作者：Ekram M. Fateen^a ; ^{efateen@yahoo.com} (Professor) ; Hanan Abd El Mawgoud^b ; ^{hananmoawad@gmail.com} (Assistant Professor) ; Noura R. Eissa^c ; ^{nr.eissa@yahoo.com} (Assistant Reseacher) ; Mona M. Ibrahim^a ; ^{monamahmoud60@yahoo.com} (Assistant Professor) ; Mona S. Aglan^d ; ^{drmona_aglan@yahoo.com} (Professor) ; Mona L. Essawi^c ; ^{mlessawi@yahoo.com} (Professor)
• 关键词：MPS IVA ; Mucopolysaccharidosis type 4 &ndash ; A ; GALNS ; N-acetylgalactosamine-6-sulfatase ; GAGs ; Glycosaminoglycans ; NRC ; National Research Centre ; MPSs ; Mucopolysaccharidoses ; GLB1 ; β-Galactosidase ; KS ; Keratan Sulfate ; C6S ; Chondroitin-6-Sulfate ; kDa ; Kilo Dalton ; HGMD ; Human Gene Mutation Database ; ERT ; Enzyme Replacement Therapy ; LMSDC ; Limb Malformation and Skeletal Deformities Clinic ; RFLP ; Restriction Fragment Length Polymorphism ; PCR ; Polymerase Chain Reaction ; mRNA ; messenger Ribonucleic
• 刊名：Gene
• 出版年：2017
• 出版时间：5 February 2017
• 年：2017
• 卷：600
• 期：Complete
• 页码：48-54
• 全文大小：778 K
• 卷排序：600

文摘

A correlation between consanguinity and homozygousity of the mutations could be established. The homozygous mutation in exon 1, p.Q12X (c.34C > T) is associated with severe phenotype of MPS IVA. Mutations to codon no. 254 of exon 8 are most probably associated with the classic severe phenotype of MPS IVA. No correlation between the enzyme activity and position of mutation could be established according the used techniques.