title: Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome.
abstract: Sanjad-Sakati syndrome (SSS) is an autosomal recessive disorder characterized by congenital hypoparathyroidism, growth and mental retardation. In Saudi Arabia, the disease is caused by a deletion of 12 bp (155-166nt) in the tubulin-specific chaperone E gene. In a family with two affected siblings with SSS, preimplantation genetic diagnosis (PGD) was performed. Fluorescent PCR (F-PCR) was utilized to check the heterozygosity and the homozygosity status of the parents and the affected children, respectively. F-PCR was then optimized for single-cell analysis by using peripheral blood lymphocytes. The patient underwent a cycle with intra-cytoplasmic sperm injection. A total of 11 embryos were obtained and biopsied. There were five heterozygous, three homozygous affected and three normal embryos. One heterozygous and one normal embryo were transferred because of their very good quality (morula). A singleton pregnancy was obtained, and amniosynthesis confirmed the presence of the heterozygous fetus. These results show for the first time, the feasibility of PGD for SSS.
authors.affiliation: King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. hellani@kfshrc.edu.sa
authors.forename: Ali
authors.initials: A
authors.lastname: Hellani
authors.forename: Aida
authors.initials: A
authors.lastname: Aqueel
authors.forename: Kamal
authors.initials: K
authors.lastname: Jaroudi
authors.forename: Pinar
authors.initials: P
authors.lastname: Ozand
authors.forename: Serdar
authors.initials: S
authors.lastname: Coskun
mesh_terms: D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D006130:Growth Disorders / Q000150:complications / Q000235:genetics; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications / Q000151:congenital / Q000235:genetics; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008214:Lymphocytes / Q000737:chemistry; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D012529:Saudi Arabia; D020554:Sperm Injections, Intracytoplasmic; D013577:Syndrome
chemical_list: D018832:Molecular Chaperones; C469270:TBCE protein, human; D004247:DNA