Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe

Mucopolysaccharidosis type IVA, also known as Morquio (Morquio-Brailsford) syndrome results from accumulation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S), whereas the primary cause is mutations in the gene encoding galactosamine ( N -acetyl)-6-sulfatase (GALNS). Phenotypically it seems t...

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Bibliographic Details
Published in:Journal of applied genetics 2019-05, Vol.60 (2), p.163-174
Main Authors: Jezela-Stanek, Aleksandra, Różdżyńska-Świątkowska, Agnieszka, Kulpanovich, Anna, Ciara, Elżbieta, Marucha, Jolanta, Tylki-Szymańska, Anna
Format: Article
Language:English
Subjects:
Animal Genetics and Genomics
Anthropometry
Biomedical and Life Sciences
Chondroitin sulfate
D-Galactosamine
Enzymatic activity
enzyme activity
Enzymes
Europe
face
galactosamine
genes
Genetic aspects
genotype
Genotypes
Growth
head circumference
Human Genetics
Human Genetics • Original Paper
Keratan sulfate
Life Sciences
Microbial Genetics and Genomics
Mucopolysaccharidosis
Mutation
natural history
Parameters
patients
phenotype
Phenotypes
Plant Genetics and Genomics
Signs and symptoms
Sulfates
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Summary:Mucopolysaccharidosis type IVA, also known as Morquio (Morquio-Brailsford) syndrome results from accumulation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S), whereas the primary cause is mutations in the gene encoding galactosamine ( N -acetyl)-6-sulfatase (GALNS). Phenotypically it seems to be a well-defined condition, with two main clinical forms: mild (attenuated) and severe, which are determined based on a combination of symptoms, i.e., enzymatic activity of GALNS, age of onset, and symptom severity. Nevertheless, the natural history of MPSIVA in relation to specific anthropometric parameters (growth, head circumference, body proportions, and face phenotype) is not precisely characterized. The aim of our work was to analyze the aforementioned anthropometric parameters, including correlation to molecular data (causative GALNS mutations).
ISSN:1234-1983
2190-3883
DOI:10.1007/s13353-019-00491-1