1. An unusual Gaucher family

An unusual Gaucher family

Paskal Cullufi 1 Mirela Tabaku 1 Christian Beetz 2 S Tomori 1 Virtut Velmishi, MD 1 A Gjikopulli 1 Dr. Peter Bauer, MD 2 S Wirth 3 Prof. Arndt Rolfs, MD 2, 4
1 University Hospital Center “Mother Teresa” Tirana 2 CENTOGENE AG 3 HELIOS University Hospital Wuppertal 4 University of Rostock
October 26, 2019

Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family

A family in which all individuals over two generations suffer from an unexplained phenotype was recently referred to CENTOGENE for diagnostic workup. Comprehensive biochemical and genomic screening revealed the presence of four distinct GBA gene genotypes, each leading to Gaucher disease. This highly unusual constellation was published in the journal Molecular Genetics and Metabolism Reports.