title: Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.
abstract: Propionic acidemia is a metabolic disorder (OMIM 606054) caused by deficiency of the propionyl-coenzyme A (CoA) carboxylase, which subsequently results in accumulation of propionic acid. Patients may initially present with poor feeding, vomiting, loss of appetite, hypotonia, and lethargy. Later, most children will show different degrees of motor, social and language delay even more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Two siblings affected with propionic acidemia were screened for putative mutations in PCCA and PCCB genes coding alpha and beta subunits of propionyl-coenzyme A (CoA) carboxylase, respectively. Both patients had a mild-severe form of propionic acidemia. The investigations using PCR, long-PCR, array comparative genomic hybridization (aCGH), and sequencing techniques showed a approximately 73kb deletion extending from intron 16 to intron 19 and an 18bp insertion at the distal end of the deletion in PCCA gene. The deletion so far is the largest gross change reported in the literature for the PCCA gene.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia. nkaya@kfshrc.edu.sa
authors.forename: Namik
authors.initials: N
authors.lastname: Kaya
authors.forename: Mohammad
authors.initials: M
authors.lastname: Al-Owain
authors.forename: Albandary
authors.initials: A
authors.lastname: Albakheet
authors.forename: Dilek
authors.initials: D
authors.lastname: Colak
authors.forename: Ali
authors.initials: A
authors.lastname: Al-Odaib
authors.forename: Faiqa
authors.initials: F
authors.lastname: Imtiaz
authors.forename: Serdar
authors.initials: S
authors.lastname: Coskun
authors.forename: Moeenaldeen
authors.initials: M
authors.lastname: Al-Sayed
authors.forename: Zuhair
authors.initials: Z
authors.lastname: Al-Hassnan
authors.forename: Hamad
authors.initials: H
authors.lastname: Al-Zaidan
authors.forename: Brian
authors.initials: B
authors.lastname: Meyer
authors.forename: Pinar
authors.initials: P
authors.lastname: Ozand
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011422:Propionates / Q000097:blood*; D012529:Saudi Arabia
chemical_list: D011422:Propionates; C029658:propionic acid