title: Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.
abstract: Prolidase deficiency (PD) is a rare genetic disorder caused by mutations in the peptidase D (PEPD) gene, affecting collagen degradation. Features include lower extremity ulcers, facial dysmorphism, frequent respiratory infections, and intellectual disability, though there is significant intra- and interfamilial variability. Twenty-eight mutations have been previously reported, all either small deletions/duplications or point mutations discovered by enzyme or DNA assays. PD has been reported in patients of various ethnic backgrounds, but never in the Mexican-American population. We describe the first Mexican-American patient with PD, who presented with typical facial features, developmental delay, microcephaly, and xerosis. Chromosome microarray analysis (CMA) revealed a homozygous deletion in the region of 19q13.11, estimated to be between 124.79 and 195.72 kb in size, representing the largest PEPD gene deletion reported to date and the first discovered by CMA.
authors.affiliation: Department of Pediatrics, St. Louis University, St. Louis, Mo., USA.
authors.forename: Jonathan P
authors.initials: JP
authors.lastname: Hintze
authors.affiliation: Division of Medical Genetics, St. Louis University, St. Louis, Mo., USA.
authors.forename: Amelia
authors.initials: A
authors.lastname: Kirby
authors.affiliation: Division of Medical Genetics, St. Louis University, St. Louis, Mo., USA.
authors.forename: Erin
authors.initials: E
authors.lastname: Torti
authors.affiliation: Department of Pediatrics and Molecular Cytogenetics, SSM Health Cardinal Glennon Children's Hospital, St. Louis University School of Medicine, St. Louis, Mo., USA.
authors.forename: Jacqueline R
authors.initials: JR
authors.lastname: Batanian
keywords: Chromosome microarray analysis; Deletion mutation; Novel mutation; PEPD; Prolidase deficiency