Prenatal diagnosis of Aicardi-Goutières syndrome type 3: report of two pedigrees / 中华围产医学杂志

ABSTRACT

Two pedigrees are reported here including two siblings and a boy who were diagnosed with Aicardi-Goutières syndrome type 3 (AGS3) caused by compound heterozygous variation of RNASEH2C gene. Prenatal gene diagnosis was performed when their mothers were pregnant again. All three cases presented with epilepsy, microcephaly, muscular hypertonia and severe language, motor and mental retardation. In pedigree 1, genetic analysis showed compound heterozygous variants of c.194G>A (p.Gly65Asp) and c.434G>T (p.Arg145Leu) in the RNASEH2C gene of proband 1 and her younger brother, which were inherited from their mother and father respectively. While in pedigree 2, c.194G>A(p.Gly65Asp) and c.227C>T(p.Pro76Leu) compound heterozygous variants in the RNASEH2C gene were found in proband 2, which were inherited from his father and mother, respectively. Diagnosis of AGS3 was confirmed in these three cases based on their medical history and the testing results. The mothers from the two families underwent prenatal diagnosis in their subsequent pregnancy, and the variation only inherited from the mothers was detected, suggesting that the two fetuses are carriers. Both families chose to continue the pregnancy and delivered at full-term. No growth or development abnormalities were reported in the children during a one-year follow-up.