title: Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.
abstract: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. Germline point mutations in the serine/threonine kinase 11 (STK11) have been identified in about 70% of patients with PJS. Only a few large genomic deletions have been identified. We report on a girl with PJS and multiple congenital anomalies. She had intellectual disability, umbilical hernia, bilateral inguinal hernias, scoliosis, and distinct facial appearance including prominent mandible, smooth philtrum, and malformed ears. She developed lip pigmentation at the age of 12 years but had no gastrointestinal polyps. Array comparative genomic hybridization revealed an approximately 610 kb deletion at 19p13.3, encompassing STK11. Together with previous reports, the identification of common clinical features suggests that microdeletion at 19p13.3 encompassing STK11 constitutes a distinctive phenotype.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kuroda
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Saito
authors.forename: Jun-Ichi
authors.initials: J
authors.lastname: Nagai
authors.forename: Kazumi
authors.initials: K
authors.lastname: Ida
authors.forename: Takuya
authors.initials: T
authors.lastname: Naruto
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Masuno
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics*; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype
keywords: Peutz-Jeghers syndrome; array comparative genomic hybridization; cancer predisposition in childhood; intellectual disability; serine/threonine kinase 11 (STK11)