title: [Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family].
abstract: OBJECTIVE
  To explore the application of preimplantation genetic diagnosis (PGD) for infantile malignant osteopetrosis (IMO).
  
  
  METHODS
  For a family affected with IMO, PGD was provided using combined parental mutation detection and haplotype constructions with microsatellite markers spanning the TCIRG1 gene. Prenatal diagnosis was performed on the chorionic villus and amniocentesis samples by direct sequencing.
  
  
  RESULTS
  Prenatal diagnosis showed that the fetus by the third pregnancy has carried the parental mutations [c.242delC (p.Pro81Argfs*85) and c.1114C>T (p.Gln372*)], and the pregnancy was terminated. PGD was subsequently performed through mutations detection and haplotype analyses following whole genome amplification (WGA) of each of 13 cells. The results showed that 6 of the 13 embryos were unaffected, 3 were carriers and 4 were affected. Well developed unaffected/carrier embryos were selected and transferred into the uterus. A single pregnancy was confirmed. Subsequently pre- and post-natal diagnoses have confirmed development of a healthy child.
  
  
  CONCLUSIONS
  The study demonstrated the advantage of PGD over prenatal diagnosis when natural pregnancies have repeatedly produced IMO children/fetuses.
authors.affiliation: Department of Medical Genetics, Center for Genome Research, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R.China. xuyanwen@live.cn.
authors.forename: Ping
authors.initials: P
authors.lastname: Yuan
authors.forename: Yanhong
authors.initials: Y
authors.lastname: Zeng
authors.forename: Lingyan
authors.initials: L
authors.lastname: Zheng
authors.forename: Jia
authors.initials: J
authors.lastname: Deng
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Yanwen
authors.initials: Y
authors.lastname: Xu
authors.forename: Canquan
authors.initials: C
authors.lastname: Zhou
mesh_terms: D000328:Adult; D001483:Base Sequence; D005260:Female; D005307:Fertilization in Vitro; D005333:Fetus; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D010022:Osteopetrosis / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics / Q000517:prevention & control; D010375:Pedigree; D017354:Point Mutation; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics
chemical_list: C472421:TCIRG1 protein, human; D025262:Vacuolar Proton-Translocating ATPases