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

  title={Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux‐Lamy syndrome},
  author={Dirk Isbrandt and John Joseph Hopwood and Kurt von Figura and Christoph Peters},
  journal={Human Mutation},

Two novel missense mutations in exon 9 of TPO gene in Polycystic Ovary Syndrome patients with hypothyroidism

This study was reflected on the relationship between the polycystic ovary syndrome (PCOS) and the geneticalternations in TPO gene and the results of hormonal assay were as follows: There is significant decrease in E2 and FSHlevels in PCOS women and fertile women, and there is significant increase in LH levels in PCos women andfertile women.

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

The first study on the ARSB gene mutations in MPS VI patients of Turkish ethnogeographic origin is reported, with a high number of homozygotes reported, reflecting the high degree of consanguinity of the Turkish population.

Investigating the genetic basis of cranial cruciate ligament rupture in the Newfoundland dog

The work has contributed to the understanding of causative factors involved in CCL rupture susceptibility and may be an important step in the development of a screening test to reduce the incidence of CCL ruptures in dogs and thus improve their health and welfare.

Análise de mutações no gene arilsulfatase B em pacientes com mucopolissacaridose tipo VI do Brasil : definição de uma possível origem comum em Monte Santo/BA

The results of this work strongly suggest a founder effect accounting for the high frequency of p.H178L mutation in this area and reinforces the need of a comprehensive community genetics program for this area.

Mucopolysaccharidosis VI

Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfat enzyme deficiency).

Análisis genético y molecular del síndrome de Maroteaux-Lamy

Esta tesis es una contribucion al conocimiento del sindrome de Maroteux-Lamy en el terreno de la genetica molecular. El sindrome de Maroteaux-Lamy o mucopolisacaridosis de tipo VI (MPS VI) es una



Structure of the human arylsulfatase B gene.

In isolated lambda-phage clones containing the human arylsulfatase B gene region, a 398 bp DNA-fragment of the 5' flanking region exhibits promotor activity when transiently expressed in BHK-21 cells using the bacterial chloramphenicol acetyltransferase gene as a reporter gene.

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

The six mutations described in the present study were unique among 25 unrelated mucopolysaccharidosis VI patients, suggesting a broad molecular heterogeneity of the Maroteaux-Lamy syndrome.

An N‐acetylgalactosamine‐4‐sulfatase mutation (ΔG238) results in a severe Maroteaux‐Lamy phenotype

The patient was homozygous for an early frameshift mutation caused by the deletion of a G at position 238 (ΔG238), which produces a truncated 4‐sulfatase with an altered amino acid sequence from amino acid 80 to a premature stop codon at codon 113 relative to the normal 4-sulf atase reading frame of 533 amino acids.

Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

The identification of these three ASB mutations documents the first evidence of molecular heterogeneity in MPS VI and provides an initial basis for genotype/phenotype correlations in this lysosomal storage disease.