By Danielle Szewc
Many genetic disorders follow typical Mendelian genetics—where a person affected by the disease requires two copies of the mutated gene in order to display the disorder, and carriers are those with a single mutated gene displaying no signs or symptoms. However, Fragile X syndrome, a disorder that is caused by variants in genes on the X chromosome and that is the most common single-gene cause of autism, may also cause associated conditions in carriers.
In The Carriers: What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery, Anne Skomorowsky, a psychiatrist and clinical instructor, focuses on the premutation carriers, specifically the mothers of Fragile X syndrome children and their family history. She provides a thorough look into the history of medical knowledge and the family lineage of the carriers of Fragile X syndrome, as well as the socio-economic situations and associated disorders that are seen in carriers.
Skomorowsky offers a glimpse into the lives of those living with Fragile X syndrome. She weaves personal accounts into the book along with biomedical evidence and history to create an informative narrative that highlights how little is known about this genetic disorder. However, the writing style may be better for those who have a background and education in biomolecular, genetic, or medical sciences, or a family who is affected by the mutation and would like a further view into the lives of others who are affected.
Still, the writing should not be classified into a scientific reference piece and when reading should be looked at as familial case studies and a single viewpoint on the subject. It is more of a narrative approach that gives insight on family heritage rather than a complete guide to understanding all that is associated with Fragile X syndrome and its carriers. The Carriers: What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery is a niche book that currently fills a void in the literature surrounding this syndrome, and it should be considered a stepping stone on the path to learning more.
Thank you, NetGalley and Columbia University Press, for the complimentary copy in exchange for an honest review.