Table 1.
Mutations in ARSB found in patients, through this study. Mutations, demographic particulars and parental consanguinity of patients are listed. Patients P6 & P7 belong to the same family (F6). Mutations shown in bold font are novel ones. Mutation in the second allele was not found in P1.
| Family ID | Patient ID | State (language) |
Parental consanguinity (degree) |
Present Age (years) |
Mutation |
Disease severity in patient | |||
|---|---|---|---|---|---|---|---|---|---|
| Nucleotide change | Predicted amino acid change | Homozygous/heterozygous | Original reference | ||||||
| F1 | P1 | Tamil Nadu (Tamil/Telugu) |
No | 19 | c.1348G > C/? | p.W450C/? | Heterozygous | [1] | Moderate |
| F2 | P2 | Assam (Hindi) |
No | 7 | c.293 T > G | p.L98R | Homozygous | This study | Attenuated |
| F3 | P3 | Tamil Nadu (Tamil) |
Yes (4°) | 19 | c.1348G > C | p.W450C | Homozygous | [1] | Attenuated |
| F5 | P5 | Andhra Pradesh (Telugu) | Yes (2°) | 6 | c.157G > A | p.D53N | Homozygous | [1] | Moderate |
| F6 | P6 | Karnataka (Kannada) |
Yes (5°) | 4 | c.944G > C | p.R315P | Homozygous | This study | Moderate |
| F6 | P7 | Karnataka (Kannada) |
Yes (5°) | 2 | c.944G > C | p.R315P | Homozygous | This study | NA |
| F7 | P8 | Karnataka (Kannada) |
Yes (3°) | 16 | c.479G > A | p.R160Q | Homozygous | [34] | Moderate |
| F8 | P9 | Andhra Pradesh (Telugu) |
Yes (3°) | Deceased | c.271 T > Ca | p.C91Ra | Homozygousa | This study | Severe |
| F9 | P10 | Tamil Nadu (Tamil) |
Yes (3°) | 7 | c.113_121del9 | p.G38_G40del3 | Homozygous | This study | Attenuated |
NA = Not applicable. Patient P7, who is homozygous for her familial ARSB mutation, has not yet developed clinical symptoms of the disease. Patient P4 (F4) was not a subject of this study. Refer to Section 3.2 for the parameters used to rate disease severity.
a
Mutation inferred from genotypes of parents.