𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Five novel mutations in fourteen patients with Fabry disease

✍ Scribed by Kirsten Marie Rosenberg; Raphael Schiffmann; Christine Kaneski; Roscoe O. Brady; Sven Asger Sørensen; Lis Hasholt

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
20 KB
Volume
15
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme α αgalactosidase A. The mutations responsible for Fabry disease are diverse and include large rearrangements as well as single base substitutions, and they are dispersed throughout the seven exons of the gene. In this study, we found five novel mutations in four different exons. We have detected the mutations by the PCR-SSCP method and then analysed them by direct sequencing. Three of the novel mutations were deletions: 1205delA, 1238del26 and 5236del18. We also found one novel nonsense mutation: W162X. The final novel mutation was an insertion combined with a deletion: 10995ins24del4.

📜 SIMILAR VOLUMES

Mutation analysis in patients with Wilso
Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations
✍ Regina Haas; Bertha Gutierrez-Rivero; Judith Knoche; Klaus Böker; Michael P. Man 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802-808delTGTAAGT, 2

Identification of a novel point mutation
Identification of a novel point mutation (S65T) in α-galactosidase A gene in Chinese patients with Fabry disease
✍ Chia-Hsiang Chen; Pei-Wen Shyu; Su-Jen Wu; Song-Shan Sheu; Robert J. Desnick; Kw 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 125 KB

Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of a-galactosidase A. The molecular defects of human a-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the ge

Mutation analysis in 20 patients with Hu
Mutation analysis in 20 patients with Hunter disease
✍ Sandra Leistner Goldenfum; Elisabeth Young; Helen Michelakakis; S. Tsagarakis; B 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 244 KB 👁 3 views

Hunter disease (mucopolysaccharidosis type I1 or MPS 11) is an X-linked recessive lysosomal storage disease resulting from a deficiency of L-iduronate 2-sulfate-sulfatase (IDS) (EC 3.1.6.13), which is involved in the catabolism of glycosaminoglycans (GAGS) . Excessive accumulation in the tissues and

Novel mutations in African American pati
Novel mutations in African American patients with glycogen storage disease type II
✍ Nina Raben; Eunice Lee; Laura Lee; Rochelle Hirschhorn; Paul H. Plotz 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 74 KB

The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid α αglucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. We have recently demonstrated that African America

Novel missense mutation (Y231C) in a Tur
Novel missense mutation (Y231C) in a Turkish patient with Canavan disease
✍ Rady, Peter L.; Vargas, Trini; Tyring, Stephen K.; Matalon, Reuben; Langenbeck, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

## To the Editor: Canavan disease (CD) is an autosomal recessive neurodegenerative disorder affecting white matter and leading to spongy degeneration. Macroencephaly is characteristic in children with this severe leukodystrophy. The disease is caused by the deficiency of aspartoacylase (ASPA) and i