Mutations of patients with MPS VII in the survey (n=6)*
| Amino acid change† | Exon | Degree of conservation‡ | Amino acid change† | Exon | Degree of conservation‡ | Population/ethnicity | Presentation of the disease | Phenotype |
|---|---|---|---|---|---|---|---|---|
| p.D50Y | 1 | 2 | p.L565V | 11 | 4 | American/African-American | Early onset (in utero) | Severe |
| p.D89G | 2 | 4 | p.D362N | 7 | 1 | American/Caucasian | Early onset (in utero) | Normal§ |
| p.V99M | 2 | 1 | p.W289X | 5 | 2 | American/Hispanic | Early onset (at birth) | Severe with severe MR |
| p.L176F | 3 | 1 | p.L176F | 3 | 1 | Mexican-American/Hispanic | Early onset (at birth) | Severe with moderate MR |
| p.R382C | 7 | 1 | p.R382C | 7 | 1 | Japanese/Asian | Early onset (1–3 years) | Mild with MR |
| p.P408S | 7 | 2 | p.P415L | 7 | 5 | Mexican-American/Hispanic | Early 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 (http://www.hgvs.org/mutnomen).
‡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.