What gene is involved?
PVRL1makes nectin-1, a “cell-to-cell glue” (a cell-adhesion molecule) that sits at the contacts between neighboring cells and helps them stick together and organize. It connects inside the cell to the actin skeleton and helps tissues form proper layers and shapes.
How do changes in PVRL1cause the condition?
Most families have two faulty copies of the gene (autosomal recessive). These changes usually reduce or eliminate nectin-1, so cells don’t stick together and coordinate as they should during early development of the lip/palate, skin, hair, teeth, and fingers/toes, leading to cleft lip and/or cleft palate, webbing (syndactyly), hair thinning/loss, and dental differences.
Anything else about nectin-1?
People who carry one copy of the PVRL1p.W185X change may have a slightly higher chance of having a baby with an isolated cleft lip (with or without cleft palate). Most carriers have healthy, unaffected children. Keep in mind that many factors (other genes and the environment) also play a role, and a genetic counselor can help put this small increase in risk into context for your family.
Testing implications
Diagnosis relies on genetic testing of PVRL1. Once the family’s changes are known, carrier testing and prenatal options are available.
PVRL1