Table 2

Mutations of patients with MPS VII in the survey (n=6)*

Amino acid change†ExonDegree of conservation‡Amino acid change†ExonDegree of conservation‡Population/ethnicityPresentation of the diseasePhenotype
p.D50Y12p.L565V114American/African-AmericanEarly onset (in utero)Severe
p.D89G24p.D362N71American/CaucasianEarly onset (in utero)Normal§
p.V99M21p.W289X52American/HispanicEarly onset (at birth)Severe with severe MR
p.L176F31p.L176F31Mexican-American/HispanicEarly onset (at birth)Severe with moderate MR
p.R382C71p.R382C71Japanese/AsianEarly onset (1–3 years)Mild with MR
p.P408S72p.P415L75Mexican-American/HispanicEarly onset (at birth)Moderate with severe MR
  • *More extensive data on mutations in MPS VII is available in references.28–32

  • †The methionine encoded by the translation initiation site (start codon) is numbered as residue 1 (

  • ‡1. Conserved among all species; 2. Vertebrate specific; 3. Mammal specific; 4. Domestic species specific; 5.Non-conserved.

  • §BMT Patient 5.

  • BMT, bone marrow transplantation; MPS VII, mucopolysaccharidosis VII; MR, mental retardation.