From: Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
Case No | GA (weeks) | Ultrasound finding(Hpo number) | Gene(OMIM) | Variant | Variant classification (ACMG criteria) | Inheritance mode | Disease | Origin |
---|---|---|---|---|---|---|---|---|
1 | 24 | Polycystic kidney dysplasia (0,000,113) | PKHD1(263,200) | NM_138694:c.8301delC(p.Asn2768fs) het Exons 58–60 repeat het | LP(PVS1 + PM2) LP | AR | Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease | Maternal/paternal |
2 | 24 | Polycystic kidney dysplasia (0,000,113) Oligohydramnios (0,001,562) | JAG1(118,450) | NM_000214:c.2078_2079delGT(p.Cys693fs) het | P(PVS1 + PM2 + PP5) | AD | Alagille Syndrome 1 | Maternal |
3 | 14+3 | Abnormality of long bone morphology (0,011,314) Medial deviation of the foot (0,008,082) Hydrops fetalis (0,001,789) | COL1A1(114,000) | NM_000088:c.2399G > A(p.Gly800Glu) het | LP(PM1 + PM2 + PM6 + PP2 + PP3) | AD | Caffey disease | De novo |
4 | 18+6 | Abnormal thorax morphology (0,000,765) Aplasia/hypoplasia of the extremities (0,009,815) Thickened nuchal skin fold (0,000,474) | FGFR3 (100,800) | NM_000142:c.742C > T(p.Arg248Cys) het | P(PS4 + PM1 + PM2 + PP3) | AD | Achondroplasia | De novo |
5 | 19 | Short lower limbs (0,006,385) | FGFR3 (100,800) | NM_000142:c.742C > T(p.Arg248Cys) het | P(PM1 + PM2 + PP3 + PS4) | AD | Achondroplasia | De novo |
6 | 24+1 | Aplasia/hypoplasia of the extremities (0,009,815) Abnormal thorax morphology (0,000,765) | FGFR3 (100,800) | NM_000142:c.742C > T(p.Arg248Cys) het | P(PM1 + PM2 + PP3 + PS4) | AD | Achondroplasia | De novo |
7 | 33+1 | Abnormal thorax morphology (0,000,765) Aplasia/hypoplasia of the extremities (0,009,815) | DYNC2H1 (613,091) | NM_001080463:c.9182_9185delAGAG(p.Glu3061fs) het c.7495C > G(p.Leu2499Val) het | LP(PVS1 + PM2_S) VUS(PM1 + PM2_S + PM3) | AR | Asphyxiating Thoracic Dystrophy 3 | Maternal/paternal |
8 | 13 | Micrognathia (0,000,347) | GNAI3 (602,483) | NM_006496:c.119G > T(c.119G > T) het | LP(PM1 + PM2 + PM6 + PP3) | AD | Auriculocondylar Syndrome 1 | De novo |
9 | 24 | Hydrocephalus (0,000,238) | LICAM (307,000) | NM_000425:c.1258delT(p.Tyr420fs) | LP(PVS1 + PM2_S) | XR | Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius | Maternal |
10 | 29+4 | Polycystic kidney dysplasia (0,000,113) Polyhydramnios (0,001,561) | PKHD1 (263,200) | NM_138694:c.979A > G(p.Asn327Asp) het c.11282C > A(p.Gln3761Lys) het | VUS(PM1 + PM2) VUS(PM2 + PP3) | AR | Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease | Maternal/paternal |
11 | 16 | Short long bone (0,003,026) | COL1A1 (166,200) | NM_000088:c.1273G > A(p.Gly425Ser) het | LP(PM1 + PM2_S + PM6 + PP2 + PP3) | AD | Osteogenesis Imperfecta, Type I | De novo |
12 | 23 | Hyperechogenic kidneys (0,004,719) | ACE (267,430) | NM_000789:c.1028G > A(p.Trp343*) hom | P(PVS1 + PM2_S + PM3) | AR | Renal Tubular Dysgenesis | Maternal/paternal |
13 | 17+3 | Aplasia/hypoplasia of the extremities (0,009,815) Abnormal thorax morphology (0,000,765) Polydactyly (0,010,442) | DYNC2H1 (613,091) | NM_001080463:c.557G > T(p.Gly186Val) het c.7643 T > C(p.Phe2548Ser) het | VUS(PM2 + PM3) LP(PS1 + PM2 + PM3) | AR | Asphyxiating Thoracic Dystrophy 3 | Maternal/paternal |
14 | 14+ | Short long bone (0,003,026) Abnormal thorax morphology (0,000,765) Hypoplasia of the frontal bone (0,005,466) Large fontanelles (0,000,239) | DYNC2H1 (613,091) | NM_001080463:c.8190G > T(p.Leu2730Phe) het c.8621delC(p.Leu2876fs*15) het | LP(PVS1 + PM2) LP(PVS1 + PM2) | AR | Asphyxiating Thoracic Dystrophy 3 | Maternal/paternal |
15 | 25+ | Hydrocephalus (0,000,238) Dilation of lateral ventricles (0,006,956) Absent septum pellucidum (0,001,331) | L1CAM (307,000) | NM_000425:c.1989C > G(p.Tyr663*) hemi | LP(PVS1 + PM2) | XR | Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius | Maternal |
16 | 21+2 | Abnormal thorax morphology (0,000,765) Aplasia/hypoplasia of the extremities (00,098,150) | DYNC2H1 (613,091) | NM_001080463:c.2070A > T(p.Arg690Ser) het c.8946 + 1G > A het | VUS(PM2_S + PM3) LP(PVS1 + PM2) | AR | Asphyxiating Thoracic Dystrophy 3 | Maternal/paternal |
17 | 23 | Medial deviation of the foot (0,008,082) Abnormal hand morphology (0,005,922) | NEB (619,334) | NM_001271208:c.25159C > T(p.Gln8387*) het c.7494dupT(p.Asp2499fs) het | LP(PVS1 + PM2_S + PP4) LP(PVS1 + PM2_S + PP4) | AR | Arthrogryposis Multiplex Congenita 6 | Maternal/paternal |
18 | 12+4 | Aplasia/Hypoplasia of the radius (0,006,501) | SALL4 (607,323) | NM_001318031:c.844delC(p.Gln282fs) het | P(PVS1 + PM2 + PP1) | AD | Duane-radial ray syndrome | Paternal |
19 | 19+4 | Hydronephrosis (0,000,126) Abnormality of bladder morphology (0,025,487) Rocker bottom foot (0,001,838) | CAD (616,457) | NM_001306079:c.2665_2666insCG(p.Lys889fs) het c.6055G > A(p.Asp2019Asn) het | LP(PVS1 + PM2) VUS(PM2 + PP2 + PP3) | AR | Epileptic Encephalopathy, Early Infantile, 50 | Maternal/paternal |
20 | 23 | Skeletal dysplasia (0,002,652) Abnormality of cardiovascular system morphology(0,030,680) Renal hypoplasia (0,000,089) | NOTCH2 (610,205) | NM_024408:c.6973C > T(p.Gln2325*) | P(PVS1 + PS2 + PM2_S) | AD | Alagille Syndrome 2 | De novo |
21 | 24 | Talipes equinovarus (0,001,762) | ECEL1 (615,065) | NM_004826:c.1700C > G(p.Pro567Arg) het c.922C > T(p.Gln308*) | VUS(PM3 + PM2_S + PP3) LP(PVS1 + PM2_S) | AR | Arthrogryposis, Distal, Type 5d | Maternal/paternal |
22 | 26 | Stillbirth (0,003,826) | PLAA (617,527) | NM_001031689:c.1658-2A > G het c.1043delC(p.Thr348fs) het | LP(PVS1 + PM2_S + PP3) LP(PVS1 + PM2_S) | AR | Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies | Maternal/paternal |
23 | 18 | Abnormal lower limb bone morphology (0,040,069) | COL1A1 (114,000) | NM_000088:c.3150_3158dupTCCTGGTGC(p.Ala1053_Pro1054insProGlyAla) het | LP(PM2_S + PM4 + PM6) | AD | Caffey disease | De novo |
24 | 25 | Polycystic kidney dysplasia (0,000,113) | PKHD1 (263,200) | NM_138694:c.3305_3306delAT(p.Tyr1102fs) het c.5935G > A(p.Gly1979Arg) het | P(PVS1 + PM2_S + PP4) LP(PM3 + PM2_S + PM1 + PP3 + PP4) | AR | Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease | Maternal/paternal |
25 | 24 | Cleft upper lip (0,000,204) Cleft palate (0,000,175) | TFAP2A (113,620) | NM_001372066:c.890-1G > A | P(PVS1 + PM2) | AD | Branchiooculofacial Syndrome | De novo |
26 | 13+3 | Cleft upper lip (0,000,204) Cleft palate (0,000,175) | KAT6B (606,170) | NM_001372066:c.4017delA(p.Gly1340fs) het | LP(PVS1 + PM2_S + PM6) | AD | Genitopatellar syndrome | De novo |
27 | 24 | Abnormal heart morphology (0,001,627) | ARID1A (614,607) | NM_006015:c.2402dupG(p.Gln802fs) het | LP(PVS1 + PM2) | AD | Coffin-siris Syndrome 2 | De novo |
28 | 19 | Pleural effusion (0,002,202) Fetal choroid plexus cysts (0,011,426) | PIEZO1 (616,843) | NM_001142864:c.5262delG(p.Trp1754fs) het c.1684C > T(p.Gln562*) het | P(PVS1 + PM2_S + PM3) LP(PVS1 + PM2) | AR | Lymphedema, Hereditary, Iii | Maternal/paternal |