Research Article
Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing
Table 2
Information of detected variations.
| | Subject | Gene | Variation | Disorder | Inheritance pattern※ | Variation effect (origin) | Global MAF※ (dbSNP) | SIFT score | PolyPhen2 score | Variation attribute (ACMG evidence levels) |
| | Family 1 | SLC26A2 | c.292T>C
(p.Trp98Arg) | Achondrogenesis IB or diastrophic dysplasia | AR | Missense(mother) | C=0.0000/0(TWINSUK); C=0.0000/1(GnomAD_exomes); C=0.0000/1(TOPMED); C=0.0000/1(ExAC); C=0.0003/1(ALSPAC) | 0 | 1 | Likely pathogenic (PM2 + PM3 + PP2 + PP3 + PP4) | c.1018_1020del
(p.Val340del) | In-frame deletion(father) | / | / | / | Pathogenic (PS1 + PM2 + PM4 + PP4 + PP5) | | Family 2 | FGFR3 | c.742C>T
(p.Arg248Cys) | Thanatophoric dysplasia, type I | AD | Missense
(de novo) | / | / | / | Pathogenic (PS1 + PS2 + PM1 + PM2) | | Family 3 | FLNB | c.601G>A
(p.Ala201Thr) | Atelosteogenesis, type I or III | AD | Missense
(de novo) | / | 0 | 0.996 | Likely pathogenic (PS2 + PM2 + PM5 + PP3) | | Family 5 | FGFR3 | c.1138G>A
(p.Gly380Arg) | Achondroplasia | AD | Missense variant
(de novo) | A=0.0000/1(TOPMED) | / | / | Pathogenic (PS1 + PS2 + PM1 + PM2) | | Family 6 | FLNB | c.685T>C
(p.Ser229Pro) | Larsen syndrome | AD | Missense
(de novo) | / | / | / | Pathogenic (PS1 + PS2 + PM2) | | Family 8 | TMEM38B | c.344C>A (p.S115X) | Osteogenesis imperfecta, type XIV | AR | Stop gained(Mother) | / | / | / | Pathogenic (PVS1 + PM2 + PP4) | | loss 1 (exon:3-4) | Exon loss
(Father) | / | / | / | Pathogenic (PVS1 + PM2 + PM4 + PP4) |
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AD: autosomal dominant; AR: autosomal recessive; MAF: minor allele frequency. |
