From: Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
Numbera | cDNA | Protein | Frequency in ExAC | In-silico analysisb | Zygosity in proband | Diagnosis | Reference and comment |
---|---|---|---|---|---|---|---|
1 | c.925C>T | p.Gln309* | NR | NS | Homozygous | DSD | [13] |
2 | c.26_35del10ins14 | p.Ala9Glufs*4 | NR | NS | Compound heterozygous | DSD | |
3 | c.1032+5G>A | NR | Splice | ||||
4 | c.514C>T | p.Gln172* | NR | NS | Heterozygousc | DSD | [13] |
5 | c.1109C>T | p.Pro370Leu | NR | Deleterious | Compound heterozygous | DSD | [13] |
6 | c.1638T>A | p.Cys546* | NR | NS | |||
7 | c.310C>T | p.Gln104* | NR | NS | Homozygous | DSD | [9]; two patients |
8 | c.251G>T | p.Cys84Phe | NR | Deleterious | Compound heterozygous | attenuated DSDd | [12] |
9 | c.1078+5G>A | NR | Splice | ||||
10 | c.416C>G | p.Thr139Arg | NR | Deleterious | Compound heterozygous | ISD | Current study |
11 | c.942G>A | p.Trp314* | NR | NS | |||
12 | c.1672C>T | p.Arg558* | 0.00004119e | NS | Homozygous | ISD | Current study |
13f | c.1988G>A | p.Cys663Tyr | 0.0000082 | Deleterious | Heterozygous | Current study |