Table 4 Genetic findings in fetal and neonatal cases with multiple malformations
From: Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
ID | Phenotype | Gene | Variant | Inheritance | Interpretation |
|---|---|---|---|---|---|
051 008 TNK | (19 weeks) IUGR, broad halluces, sacral spina bifida, postaxial polydacytly of left foot | EP300 | c.102_105del (p.G34fs) | Heterozygous, de novo | Pathogenic variant |
051 022 CYB | (25 weeks) brachycephaly, exophthalmos, short nose with depressed root, broad clavicles, belt-shaped thorax, increased density of long bones and base of the skull, brain calcifications | FAM20C FAM20C | c.956G>A (p.R319K) c.1528C>T (p.R510C) | Compound heterozygous Compound heterozygous | Likely pathogenic variant Likely pathogenic variant |
051-089-QUI | (22 weeks) clubfeet, short limbs, large thumbs | FLNB | c.4732G>C (p.A1578P) | heterozygous, de novo | Likely pathogenic variant |
051-102-OHU | (20 weeks) cryptophthalmos, syndactyly, short pharynx with hypoplasia of the epiglottis, renal agenesis, vaginal atresia | FRAS1 | c.370C>T (p.R124X) | Homozygous | Pathogenic variant |
CONGE-005 | (38 weeks) IUGR, cleft palate, anal imperforation, scrotal agenesis, agenesis of the lumbar and sacral spine and spinal cord | MNX1 | c.2T>C (p.M1T) | Homozygous | Pathogenic variant |
CONGE-021 | (25 weeks) heart defects, posterior cleft palate with microretrognathia, clubfeet | TGFBR1 | c.605_606insGAGAACTATTGT (p.A202delinsARTIV) | Heterozygous, de novo | Likely pathogenic variant |
CONGE-074 | (24 weeks) IUGR, phocomelia, diaphragmatic hernia, vertebral segmentation defects | VEGFA | c.789C>A (p.C263X) | Heterozygous, de novo | Candidate variant |
051 043 BEV | (19 weeks) severe thoracolumbar scoliosis with segmentation defects, absence of visible ribs | FKBP8 | c.572C>T (p.P191L) | Homozygous | Candidate variant |
