TY  - JOUR 
TI  - Síndrome de Morquio: nueva mutación del gen GALNS en dos hermanos del sur-occidente colombiano. Análisis clínico, molecular y bioinformático
PB  - Sociedad Mexicana de Pediatria
PY  - 2016
issn 0035-0052
AB  - Mucopolysaccharidosis type IV A, or Morquio syndrome, is an autosomal recessive lysosomal storage disorder that is caused by mutations on the GALNS gene, resulting in the accumulation of keratan sulfate and condroitin sulfate in certain tissues. It is expressed as generalized skeletal dysplasia including short stature, Pectus carinatum, platyspondylia, odontoid hypoplasia, kyphoscoliosis, and genu valgum. Material and methods: 9 and 6 six year old brothers with clinical characteristic of severe Morquio syndrome. GALNS gene sequencing is performed detecting two mutations in both brothers, the fi rst one in exon 3 (c.280C>T p.R94C), and a new mutation in exon 9 (c.998G>A p.G333D), which was determined as potentially pathological. Bioinformatic analysis of the mutations via an in silico analysis of multiple sequence homology, using the Softwares SIFT, PolyPhen, nsSNPAnalyzer, I-Mutant, FOLD X, and DeepView-Swiss-PdbView
KW  - Ciencias  socio biomédicas
KW  - Medical sciences
KW  - Síndrome de Morquio
KW  - Bioinformática
KW  - Mucopolisacaridosis
UR  - http://hdl.handle.net/10906/81413
ER  -