Table 5 Genetic findings in fetal cases with akinesia
From: Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
ID | Phenotype | Gene | Variant | Inheritance | Interpretation |
|---|---|---|---|---|---|
MALFO 1.13 | (17 weeks) cystic hygroma and akinesia | RYR1 | c.784G>T (p.E262X) | Homozygous | Pathogenic variant |
MALFO 2.13 | (12 weeks) cystic hygroma and akinesia | RYR1 | c.784G>T (p.E262X) | Homozygous | Pathogenic variant |
CONGE-060 | (20 weeks and 6 days) hydrops, flexion contractures of the elbows and atrophy of the muscle in the upper limbs | RYR1 | c.328C>T (p.H110Y)c.14927T>C (p.L4976P) | Compound heterozygousCompound heterozygous | Likely pathogenic variantLikely pathogenic variant |
