Table 1.
Inppl1 mutations and outcome in patients with opsismodysplasia
|
Mutation
type |
Status |
Nucleotide
change |
AA change | Location | Domain | Consequence | N | Recurrence | CS | Outcome | References |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Frameshift | He | c.24-39 del | p.Gly9Trp | Exon 1 | - | Stop codon | 2 | 1 family | No | Alive | 4 |
| Missense | c.753 G>C | p.Gln251His | Exon 6 | - | - | ||||||
| Frameshift | He | c.35dup | p.Ala13Arg | Exon 1 | - | Stop codon | 1 | 1 family | No | Death (newborn) | 4 |
| Frameshift | c.1687-1691 de | l p.Thr563Gly | Exon 14 | Catalytic domain |
Stop codon | ||||||
| Frameshift | Ho | c.94-121 del | p.Glu32Met | Exon 1 | SH2 domain |
Stop codon | 3 | 2 families | Yes | Death (stillborn; newborns) | 6 |
| Splice site | Ho | c.183-8G>A | Intron 1 | New acceptor site, in frame |
1 | 1 family | Yes | Alive | 9 | ||
| Frameshift | He | c.276-280 del | p.Gln93Pro | Exon 3 | SH2 domain |
Stop codon | 1 | 1 family | No | Alive | 6 |
| Missense | c.1975 C>T | p.Pro659Ser | Exon 17 | Catalytic domain |
_ | ||||||
| Splice site | Ho | c.519-3A>G | Intron 4 | New acceptor site, stop codon |
1 | 1 family | Yes | Alive | 6 | ||
| Nonsense | Ho | c.545 C>A | p.Ser182 | Exon 5 | - | Stop codon | 1 | 1 family | Yes | Alive | 4 |
| Frameshift | Ho | c.768-769 del | p.Glu258Ala | Exon 7 | - | Stop codon | 1 | 1 family | No | Alive | 4 |
| Frameshift | He | c.768-769 del | p.Glu258Ala | Exon 7 | - | Stop codon | 1 | 1 family | No | Alive | 4 |
| Splice site | 2415+1G>A | Intron 21 | - | Suppression donor site, stop codon |
|||||||
| Frameshift | He | c.1150-1151 de | l p.Lys385Gly | Exon 10 | - | Stop codon | 2 | 1 family | No | Termination of pregnancy (17 weeks); death (stillborn) |
17 |
| Splice site | c.2327-1G>C | Intron 20 | Skipping exon 21, stop codon |
||||||||
| Missense | He | c.1201 C>T | p.Arg401Trp | Exon 11 | Catalytic domain |
- | 2 | 1 family | No | Alive; termination of pregnancy (22 weeks) |
6 |
| Missense | c.2164 T>A | p.Phe722Ile | Exon 19 | Catalytic domain |
- | ||||||
| Frameshift | He | c.1328 delins T | A p.Thr443Ile | Exon 12 | Catalytic domain |
Stop codon | 2 | 1 family | No | Termination of pregnancy (15 weeks; 29 weeks) |
6 |
| Missense | c.2064 G>T | p.Trp688Cys | Exon 18 | Catalytic domain |
- | ||||||
| Frameshift | Ho | c.1845 dupT | p.Ile616Tyr | Exon 15 | Catalytic domain |
Stop codon | 3 | 1 family | Yes | Termination of pregnancy (14, 15 and 29 weeks) |
6 |
| Splice site | Ho | c.1951+1G>C | Intron 16 | Suppression donor site, stop codon |
1 | 1 family | Yes | Alive | 6 | ||
| In frame | Ho | c.1960-1962 de | l p.del Glu | Exon 17 | Catalytic domain |
- | 1 | 1 family | No | Alive | 7 |
| Missense | Ho | c.1976 C>T | p.Pro659Leu | Exon 17 | Catalytic domain |
- | 4 | 2 families | Yes/? | Alive | 4,16 |
| Missense | Ho | c.2071 C>T | p.Arg691Trp | Exon 18 | Catalytic domain |
- | 1 | 1 family | Yes | Termination of pregnancy | 4 |
| Nonsense | Ho | c.2719C>T | p.Arg907 | Exon 24 | - | Stop codon | 1 | 1 family | Yes | Alive | 6 |
| Nonsense | Ho | c.2845 C>T | p.Arg949 | Exon 25 | SH3 domain |
Stop codon | 2 | 1 family | Yes | Termination of pregnancy; death (15 months) |
6 |
Abbreviations: AA, amino acid; CS, consanguinity; He, heterozygous; Ho, homozygous; Inppl1, inositol polyphosphate phosphatase-like 1; N, number of patients affected.