Table 2.
ITPR1 Mutations Identified in the Individuals Affected with Gillespie Syndrome
| Pedigree | Parental Origin |
Allele 1 |
Allele 2 |
|||
|---|---|---|---|---|---|---|
| Mutation (origin) | Predicted Effect | Mutation (origin) | Predicted Effect | |||
| Family 1 | S, C | Morocco | c.4672C>T (paternal) | p.Gln1558∗ | c.4672C>T (maternal) | p.Gln1558∗ |
| Family 2 | S, C | Brazil | c.2182C>T (paternal) | p.Arg728∗ | c.2182C>T (maternal) | p.Arg728∗ |
| Family 3 | S, NC | France | c.6366+3A>T (paternal) | p.Gly2102Valfs5∗1 | c.6664+5G>T (maternal) | p.Ala2221Valfs23∗1 |
| Family 4 | S, NC | France | c.7687_7689del (de novo) | p.Lys2563del | – | – |
| Family 5 | S, NC | France2 | c.7659T>G (de novo) | p.Phe2553Leu | – | – |
Abbreviations are as follows: S, simplex family; C, consanguineous; NC, nonconsanguineous.
1
Predicted from mRNA analysis. Nucleotide positions according to the reference sequence GenBank: NM_001099952.2. The p.Phe2553Leu changes was predicted to be deleterious according to PolyPhen-2, SIFT, and Mutation Taster available through the Alamut Interpretation Software 2.0.
2
French Caribbean Island La Guadeloupe.