Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?

A patient referred for prenatal diagnostics, after first-trimester ultrasound due to a previous child with Leber congenital amaurosis, was suggestive of a Meckel syndrome-like phenotype. Fetal autopsy confirmed the multiple anomalies, and whole-exome sequencing of the fetal DNA identified a pathogenic variant in theRPGRIP1 gene, previously identified in the elder sibling, and a variant causative of Meckel syndrome 1 in theMKS1gene. Reporting theMKS1 mutation, which was present in heterozygous state in the elder sibling, as a secondary finding would have enabled the parents to be tested for carrier status of the same variant and appropriate counseling could have been provided prior to the onset of the pregnancy. Although the information may not be of great benefit in cases where the ultrasonographic changes can be recognized early, it would be of definitive help where diagnostic imaging in early pregnancy is not possible.Mol Syndromol

Source: Molecular Syndromology - January 21, 2019 Category: Molecular Biology Source Type: research