Verification of a syndrome with a high degree of genetic heterogeneity and clinical polymorphism

Abstract

Нereditary syndromes of multiple congenital malformations (MCM) are a large group of chromosomal and monogenic diseases, currently reaching more than 3 thousand forms. Diagnosis and verification of MCM syndromes is often difficult due to the variety of forms, inter-family and intra-family clinical polymorphism, and in sporadic cases, the most reliable will be with a full set of phenotypic features. In addition, differential diagnosis can also be difficult due to the similarity of phenotypic features in different syndromes. In such cases, the use of high-performance DNA sequencing methods can solve the problem of clarifying the diagnosis and resolving the issue of whether prenatal diagnosis of the disease in the fetus can be carried out in the family during subsequent pregnancy. As a result, NGS diagnosed a rare variant of Joubert syndrome, without molecular genetic verification, diagnosis would be difficult.