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

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.
J Appl Genet. 2019 Mar 30;:
Authors: Jezela-Stanek A, Różdżyńska-Świątkowska A, Kulpanovich A, Ciara E, Marucha J, Tylki-Szymańska A
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).
PMID: 30927141 [PubMed - as supplied by publisher]

Source: J Appl Genet - March 29, 2019 Category: Genetics & Stem Cells Authors: Jezela-Stanek A, Różdżyńska-Świątkowska A, Kulpanovich A, Ciara E, Marucha J, Tylki-Szymańska A Tags: J Appl Genet Source Type: research