Bionano Identified a Structural Variation in Poretti-Boltshauser Syndrome

Minyue Dong, MD, PhD, Director of the Department of Reproductive Genetics at Zhejiang University in China, presented on a case of a family with two pregnancies in which the fetuses showed severe brain malformations. Exome sequencing found a variant inherited from the father, but that finding alone couldn’t explain the disease. Saphyr found a tandem duplication disrupting the same LAMA1 gene, inherited from the mother. Both variants combined disrupt both copies of the gene, causing the disease.