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Details of RareLED ID 2005

Primary information
ID	2005
Disorder	MPS IVA/Morquio A disease
Inheritance	Autosomal recessive
Organ Affected	Ear,Head , Face,Teeth
Onset	Adult
Genotype-Phenotype Correlation	p.R386C (CGT to TGT) mutation at the CpG dinucleotide, nonconservative, amino acid change generates a large structural alteration of GALNS protein,leading to a severe form of MPS IVA, p.G139S transitional mutation at the CpG dinucleotide,found in several ethnic groups (Argentina, Brazil, UK, and USA).p.R380S (AGG to AGT) mutation found in two Argentine patients was also identified in an Italian MPS IVA patient with a milder form. the p.Ile113Phe [62] and p.Thr312Ser missense variants recur in patients of British-Irish origin and a milder phenotype has been associated with the residual activity of the mutant p.Thr312Ser protein
Refrences	15309681 30442161