✦ LIBER ✦

Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis

✍ Scribed by Guglielmo R. D. Villani; Nicola Balzano; Paola Di Natale

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 60 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1998)11:5<410::aid-humu9>3.0.co;2-q

No coin nor oath required. For personal study only.

✦ Synopsis

Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome, is a autosomal recessive disorder, due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB: EC 3.1.6.12). Three classical forms of the disease have been differentiated: severe, intermediate, mild. Mutational analysis of the ASB gene resulted in the identification of 30 ASB mutant alleles, each of which was found to be unique among unrelated patients, demonstrating a broad molecular heterogeneity of the disease. In this communication we present two novel mutant alleles in two severely affected subjects. Both alterations, the missense mutation G302R and the nonsense Q456X, were found in homozygosity and were confirmed by amplification refractory mutation system (ARMS) or restriction analysis. The missense G302R mutation concerns an amino acid which may be of special importance to the polypeptide, since 302 position is completely conserved in all the eukaryotic sulfatases aligned so far; the nonsense mutation Q456X leads to the translation of a putative mutant ASB protein lacking the last 78 amino acids with a loss of the 8 kD mature polypeptide, one of the two peptides generated by intralysosomal proteolytic processing of the 64 kD precursor.

📜 SIMILAR VOLUMES

Two novel frameshift mutations causing p

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome

✍ Dirk Isbrandt; John J. Hopwood; Kurt von Figura; Christoph Peters 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 269 KB 👁 2 views

Two novel mutations of the FMO3 gene in

Two novel mutations of the FMO3 gene in a proband with trimethylaminuria

✍ B.R. Akerman; S. Forrest; L. Chow; R. Youil; M. Knight; E.P. Treacy 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 1 views

The mammalian flavin-containing monooxygenases catalyze the NADPH-dependent N-oxygenation of nucleophilic nitrogen-, sulfur-, and phosphorus-containing chemicals, drugs, and xenobiotics, including trimethylamine. The FMO3 gene encodes the dominant catalytically active isoform present in human liver.

Novel mutations of the glutaryl-CoA dehy

Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I

✍ lkeda, Hiroyuki; Kimura, Toshiyuki; Ikegami, Tohru; Kato, Mitsuhiro; Matsunaga, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

We identified three different point mutations in the glutaryl-CoA dehydrogenase (GCDH) gene in two unrelated Japanese patients with glutaric aciduria type I (GA-I). One patient was a homozygote for Arg355His and the other a compound heterozygote for Ser305Leu and Met339Val. Arg355His and Met339Val a

Molecular basis of antithrombin deficien

Molecular basis of antithrombin deficiency in four Japanese patients with antithrombin gene abnormalities including two novel mutations

✍ Mayu Kyotani; Kaoru Okumura; Akira Takagi; Takashi Murate; Koji Yamamoto; Tadash 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB

Two novel frame shift mutations ofCFTR c

Two novel frame shift mutations ofCFTR causing null alleles in a patient with a severe course of CF

✍ Wong, Lee-Jun C. ;Wang, Jianjun ;Bowman, C. Michael 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 54 KB 👁 1 views

Identification of 12 novel mutations and

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype–phenotype correlation studies in spanish metachromatic leukodystrophy patients

✍ Laura Gort; M. Josep Coll; Amparo Chabás 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 305 KB 👁 2 views

Arylsulfatase A (ARSA) deficiency is the main cause of metachromatic leukodystrophy (MLD), a lysosomal disorder with no specific treatment. In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unr