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

J Appl Genet. 2019 May;60(2):163-174. doi: 10.1007/s13353-019-00491-1. Epub 2019 Mar 30.

Abstract

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).

Keywords: Anthropometric features; Genotype-fenotype analysis; Morquio syndrome A; Mucopolysaccharidosis type IVA.

MeSH terms

  • Adolescent
  • Adult
  • Anthropometry / methods
  • Child
  • Child, Preschool
  • Chondroitin Sulfates / genetics*
  • Chondroitin Sulfates / metabolism
  • Chondroitinsulfatases / genetics*
  • Europe
  • Female
  • Genotype
  • Humans
  • Infant
  • Keratan Sulfate / genetics*
  • Keratan Sulfate / metabolism
  • Male
  • Mucopolysaccharidosis IV / genetics*
  • Mucopolysaccharidosis IV / physiopathology
  • Mutation
  • Phenotype
  • Young Adult

Substances

  • Chondroitin Sulfates
  • Keratan Sulfate
  • Chondroitinsulfatases
  • GALNS protein, human