2013
DOI: 10.1007/8904_2013_276
|View full text |Cite
|
Sign up to set email alerts
|

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene

Abstract: Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive disorder caused by the deficit of the arylsulfatase B (ARSB) enzyme, which leads to dermatan sulfate pathological storage, resulting in a wide spectrum of clinical phenotypes. To date more than 130 different mutations were reported, most of them being restricted to individual families. We here report the first study on the ARSB gene mutations in MPS

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2
1

Citation Types

0
6
0

Year Published

2015
2015
2022
2022

Publication Types

Select...
5

Relationship

2
3

Authors

Journals

citations
Cited by 5 publications
(6 citation statements)
references
References 27 publications
0
6
0
Order By: Relevance
“…c.1036del was heavily represented in this population. Interestingly, p.(Leu321Pro) did not appear to be associated with a phenotypic signature in this population, possibly due to the relatively high rates of consanguineous marriages in Turkey, leading to a higher proportion of homozygous alleles across the genome and variable clinical phenotypes (Koc, ; Zanetti et al., ).…”
Section: Variantsmentioning
confidence: 85%
See 2 more Smart Citations
“…c.1036del was heavily represented in this population. Interestingly, p.(Leu321Pro) did not appear to be associated with a phenotypic signature in this population, possibly due to the relatively high rates of consanguineous marriages in Turkey, leading to a higher proportion of homozygous alleles across the genome and variable clinical phenotypes (Koc, ; Zanetti et al., ).…”
Section: Variantsmentioning
confidence: 85%
“…Interestingly, the c.962T>C mutation is not found in gnomAD (gnomad.broadinstitute.org, accessed October 26, 2017), further supporting the hypothesis that this is primarily a population‐specific variant. Individuals homozygous for p.(Leu321Pro) demonstrated a range of clinical phenotypes, from a classic, rapidly progressing phenotype to a non‐classical, slowly progressing phenotype (Isbrandt et al., ; Kantaputra et al., ; Zanetti et al., ). Of note, Leu321 is not conserved between the arylsulfatases, and the effect of the p.(Leu321Pro) mutation on the secondary structure of ASB is not known (Isbrandt et al., ).…”
Section: Variantsmentioning
confidence: 99%
See 1 more Smart Citation
“…However, even in the presence of a recurrent mutation, some patients carrying the same molecular lesion may present with different clinical phenotypes, suggesting that other variants at other gene loci and/or some environmental factors can modulate the clinical phenotype. This may be particularly important in the case of parents’ consanguinity, which is quite common in some ethnic groups due to geographical reasons or to the practice of arranged marriages [ 23 – 25 ].…”
Section: Introductionmentioning
confidence: 99%
“…Most mutations are “private”. Some mutations are common, and a few of them have been attributed to founder effect [1] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] ( [20] cited from Abstract). Study of influence of missense mutations on the overall structure and folding of ARSB helps to predict disease severity [24] , [25] .…”
Section: Introductionmentioning
confidence: 99%