Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis

摘要: Objective To identify the genetic cause of a pedigree with four patients 46,XY pure gonadal dysgenesis (PGD). Design Genetic mutation study. Setting Academic medical center. Patient(s) Four first cousins, from three households Chinese pedigree, affected by PGD. Intervention(s) None. Main Outcome Measure(s) The were studied clinical and perspectives. Whole-genome sequencing was conducted in family members. Result(s) cousins third generation A specific familial characteristic prevalence as high 100% tumors patients. identified new ferritin heavy chain–like 17 (FTHL17) mutation, c.GA442_443TT (p.E148L), which has potential to interfere protein function Moreover, location (Xp21.2) FTHL17 gene proves that is X-linked recessive. In vitro functional study revealed perturbation caused decrease expression cell proliferation. Conclusion(s) We describe PGD may be attributed mutations gene. speculated involved testis-determining pathway tumorigenesis.