Researchers May Have Found Gene Mutation for Cleft Lip and Palate
A collaborative study between the University of Southern California Herman Ostrow School of Dentistry, Keck School of Medicine of USC, Children’s Hospital Los Angeles and the nonprofit Operation Smile has found a common gene mutation in three siblings born with cleft lip and palate.
A collaborative study between the University of Southern California Herman Ostrow School of Dentistry, Keck School of Medicine of USC, Children’s Hospital Los Angeles and the nonprofit Operation Smile has found a common gene mutation in three siblings born with cleft lip and palate. Researchers examined 32,061 unique gene variations to identify intraflagellar transport 88 (IFT88) as the mutation most likely responsible for the birth defect.
According to the study, “Intraflagellar Transport 88 (IFT88) Is Crucial for Craniofacial Development in Mice and Is a Candidate Gene for Human Cleft Lip and Palate,” published in Human Molecular Genetics, IFT88 ensures transportation antennae (i.e., cilia) on embryonic cells travel to the right place, enabling the development of cartilage, bone and smooth muscle in the face and skull.
“Understanding the underlying causes of craniofacial disorders may lead to an intervention that can reduce the severity of this birth defect,” reports geneticist and coauthor Pedro Sanchez, MD, FAAP, MSCE, FACMG. While establishing a causal relationship is limited by the study’s small sample size, this research may have far-reaching implications, as other congenital diseases tied to a genetic disorder of cilia on embryonic cells include retinal degeneration, hearing defects, polydactylism and brain malformations.
From Decisions in Dentistry. May 2017;3(5):10.
