Objective: To test GRIP1 for genetic variants in FS families that do not have mutations in FRAS1 and FREM2.
Methods and results: In three unrelated families with parental consanguinity, GRIP1 mutations were found to segregate with the disease in an autosomal recessive manner (donor splice site mutation NM_021150.3:c.2113+1G→C in two families and a 4-bp deletion, NM_021150.3:c.1181_1184del in the third). RT-PCR analysis of the GRIP1 mRNA showed that the c.2113+1G→C splice mutation causes skipping of exon 17, leading to a frame shift and a premature stop of translation.
Conclusion: Mutations in GRIP1 cause classic FS in humans.
|Journal||Journal of Medical Genetics|
|Publication status||Published - May 2012|