β-Glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis

Islam, Mohammed Rafiqul; Arreola, Mayela; Wong, Paul; Tomatsu, Shunji; Corona, José Sánchez; Sly, William S.

doi:10.1002/(sici)1097-0223(199808)18:8<822::aid-pd361>3.0.co;2-6

Cited by 5 publications

(4 citation statements)

References 6 publications

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“…The most frequent missense mutations were as follows: c.526C > T (p.L176F) with 20.4% across the world; c.1244C > T (p.P415L) with 4.9%, c.1222C > T (p.P408S) with 4.9%, and c.1856C > T (p.A619V) with 4.9% for the Mexican and Japanese population; c.646C > T (p.R216W) with 3.9%, c.1144C > T (p.R382C) with 3.9%, and c.1429C > T (p.R477W) with 3.9%. p.R357X nonsense mutation was the second most common mutation in the GUSB gene [140][141][142][143][144][145][146][147][148].…”

Section: Mps VII Mutationsmentioning

confidence: 99%

Epidemiology of Mucopolysaccharidoses Update

Çelik

Tomatsu

et al. 2021

Diagnostics

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Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a lysosomal enzyme deficiency or malfunction, which leads to the accumulation of glycosaminoglycans in tissues and organs. If not treated at an early stage, patients have various health problems, affecting their quality of life and life-span. Two therapeutic options for MPS are widely used in practice: enzyme replacement therapy and hematopoietic stem cell transplantation. However, early diagnosis of MPS is crucial, as treatment may be too late to reverse or ameliorate the disease progress. It has been noted that the prevalence of MPS and each subtype varies based on geographic regions and/or ethnic background. Each type of MPS is caused by a wide range of the mutational spectrum, mainly missense mutations. Some mutations were derived from the common founder effect. In the previous study, Khan et al. 2018 have reported the epidemiology of MPS from 22 countries and 16 regions. In this study, we aimed to update the prevalence of MPS across the world. We have collected and investigated 189 publications related to the prevalence of MPS via PubMed as of December 2020. In total, data from 33 countries and 23 regions were compiled and analyzed. Saudi Arabia provided the highest frequency of overall MPS because of regional or consanguineous marriages (or founder effect), followed by Portugal, Brazil, the Netherlands, and Australia. The newborn screening is an efficient and early diagnosis for MPS. MPS I has been approved for newborn screening in the United States. After the newborn screening of MPS I, the frequency of MPS I increased, compared with the past incidence rates. Overall, we conclude that the current identification methods are not enough to recognize all MPS patients, leading to an inaccurate incidence and status. Differences in ethnic background and/or founder effects impact on the frequency of MPS, which affects the prevalence of MPS. Two-tier newborn screening has accelerated early recognition of MPS I, providing an accurate incidence of patients.

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Section: Mps VII Mutationsmentioning

confidence: 99%

Epidemiology of Mucopolysaccharidoses Update

Çelik

Tomatsu

et al. 2021

Diagnostics

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“…Among the recurrent mutations, the most prevalent are: c.526C>T (p.L176F), c.1244C>T (p.P415L), c.1222C>T (p.P408S), c.1856C>T (p.A619 V), c.646C>T (p.R216W), c.1144C>T (p.R382C), and c.1429C>T (p.R477W), accounting for 20.4, 4.9, 4.9, 4.9, 3.9, 3.9, and 3.9%, respectively [Tomatsu et al, 1990, 1991; Fukuda et al, 1991; Vervoort et al, 1993; Wu et al, 1994; Islam et al, 1996, 1998; Vervoort et al, 1996, 1997; Schwartz et al, 2003]. The p.L176F mutation has been identified in diverse ethnic populations while the p.P415L mutation and p.P415L/P408S double mutation, and the p.A619 V mutation have been detected only in Mexican and Japanese populations, respectively.…”

Section: Mps VII Mutations and Their Biological Relevancementioning

confidence: 99%

“…The p.P415L/p.P408S double point mutation and the p.A619 V mutation are of great interest since these mutations were specific to Mexican and Japanese populations, respectively [Tomatsu et al,1990, 1991; Islam et al, 1996, 1998] (Sly, unpublished results). Both founder mutations are associated with an attenuated phenotype.…”

Section: Mps VII Mutations and Their Biological Relevancementioning

confidence: 99%

“…However, expression of the doubly mutant allele resulted in markedly reduced activity and rapid degradation in an early biosynthetic compartment (Table 4) [Islam et al, 1996]. Neither p.P408S nor p.P415L mutation was present alone in a normal Mexican population [Islam et al, 1998]. The p.A619 V mutation expressed 9.1% of normal cDNA in transfected COS cells.…”

Section: Mps VII Mutations and Their Biological Relevancementioning

confidence: 99%

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Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)

et al. 2009

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Mucopolysaccharidosis VII (MPS VII; Sly syndrome) is an autosomal recessive disorder caused by a deficiency of b-glucuronidase (GUS, EC 3.2.1.31; GUSB). GUS is required to degrade glycosaminoglycans (GAGs), including heparan sulfate (HS), dermatan sulfate (DS), and chondroitin-4,6-sulfate (CS). Accumulation of undegraded GAGs in lysosomes of affected tissues leads to mental retardation, short stature, hepatosplenomegaly, bone dysplasia, and hydrops fetalis. We summarize information on the 49 unique, disease-causing mutations determined so far in the GUS gene, including nine novel mutations (eight missense and one splice-site). This heterogeneity in GUS gene mutations contributes to the extensive clinical variability among patients with MPS VII. One pseudodeficiency allele, one polymorphism causing an amino acid change, and one silent variant in the coding region are also described. Among the 103 analyzed mutant alleles, missense mutations accounted for 78.6%; nonsense mutations, 12.6%; deletions, 5.8%; and splice-site mutations, 2.9%. Transitional mutations at CpG dinucleotides made up 40.8% of all the described mutations. The five most frequent mutations (accounting for 44/103 alleles) were exonic point mutations, p.L176F, p.R357X, p.P408S, p.P415L, and p.A619 V. Genotype/phenotype correlation was attempted by correlating the effects of certain missense mutations or enzyme activity and stability within phenotypes. These were in turn correlated with the location of the mutation in the tertiary structure of GUS. A total of seven murine, one feline, and one canine model of MPS VII have been characterized for phenotype and genotype.

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Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

et al. 2004

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Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS gene was performed by RT-PCR with one amplicon and direct sequence analyses using cDNA samples from 15 Italian MPS IVA patients. Each mutation was confirmed at the genomic level. In this study, 13 different gene mutations with four common mutations (over 10% of mutant alleles) were identified in 12 severe and three milder (attenuated) MPS IVA patients. The gene alterations in 12 out of 13 were found to be point mutations and only one mutation was deletion. Ten of 13 mutations were novel. The c.1070C>T (p.Pro357Leu) mutation coexisted with c.1156C>T (p.Arg386Cys) mutation on the same allele. Together they accounted for 100% of the 30 disease alleles of the patients investigated. Four common mutations accounted for 70% of mutant alleles investigated. Urine keratan sulfate (KS) concentrations were elevated in all patients investigated. These data provide further evidence for extensive allelic heterogeneity and importance of relation among genotype, phenotype, and urine KS excretion as a biomarker in MPS IVA.

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β-Glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis

Cited by 5 publications

References 6 publications

Epidemiology of Mucopolysaccharidoses Update

Epidemiology of Mucopolysaccharidoses Update

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)

Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

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