title: Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.
abstract: Microdeletions of 17q12 encompassing TCF2 are associated with maturity-onset of diabetes of the young type 5, cystic renal disease, pancreatic atrophy, Mullerian aplasia in females and variable cognitive impairment. We report on a patient with a de novo 17q12 microdeletion, 1.8 Mb in size, associated with congenital diaphragmatic hernia (CDH). The 5-year-old male patient presented multicystic renal dysplasia kidneys, minor facial dysmorphic features and skeletal anomalies, but neither developmental delay nor behavioral abnormalities. CDH has been previously associated with the 17q12 microdeletion syndrome only in one prenatal case. The present study reinforces the hypothesis that CDH is part of the phenotype for 17q12 microdeletion and that 17q12 encompasses candidate(s) gene(s) involved in diaphragm development. We suggest that PIGW, a gene involved in an early step of GPI biosynthesis, could be a strong candidate gene for CDH.
authors.affiliation: Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France; EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France.
authors.forename: Carole
authors.initials: C
authors.lastname: Goumy
authors.forename: Fanny
authors.initials: F
authors.lastname: Laffargue
authors.forename: Eléonore
authors.initials: E
authors.lastname: Eymard-Pierre
authors.forename: Stéphen
authors.initials: S
authors.lastname: Kemeny
authors.forename: Mathilde
authors.initials: M
authors.lastname: Gay-Bellile
authors.forename: Laetiti
authors.initials: L
authors.lastname: Gouas
authors.forename: Denis
authors.initials: D
authors.lastname: Gallot
authors.forename: Christine
authors.initials: C
authors.lastname: Francannet
authors.forename: Andrei
authors.initials: A
authors.lastname: Tchirkov
authors.forename: Céline
authors.initials: C
authors.lastname: Pebrel-Richard
authors.forename: Philippe
authors.initials: P
authors.lastname: Vago
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019066:Facies; D065630:Hernias, Diaphragmatic, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome
keywords: 17q12 microdeletion; PIGW gene; array CGH; congenital diaphragmatic hernia