A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling

ConclusionWe present a novel likely pathogenic variant (c.11662C>T) inDNAH11 that has manifested in heterotaxy with variability in phenotypes for subsequent pregnancies of common parents. This report demonstrates that sibship illustrates potential variability in phenotypes associated with the same pathogenic variants within a family and highlights the difficulty in genetic counseling due to the variation in clinical presentation.

Source: Molecular Genetics & Genomic Medicine - July 6, 2020 Category: Genetics & Stem Cells Authors: Amirpouyan Namavarian, Anas Eid, Elaine Suk ‐Ying Goh, Varsha Thakur Tags: CLINICAL REPORT Source Type: research