Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. (25th November 2014)

• Record Type: Journal Article
• Authors: Goumy, Carole; Laffargue, Fanny; Eymard‐Pierre, Eléonore; Kemeny, Stéphen; Gay‐Bellile, Mathilde; Gouas, Laetiti; Gallot, Denis; Francannet, Christine; Tchirkov, Andrei; Pebrel‐Richard, Céline; Vago, Philippe
• Is Part Of: American journal of medical genetics. Volume 167:Number 1(2015:Jan.)
• Page Start: 250
• Page End: 253
• Publication Date: 2014-11-25
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36840
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36840-sec-0001" sec-type="section"> <p>Microdeletions of 17q12 encompassing <italic>TCF2</italic> 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 <italic>PIGW</italic>, a gene involved in an early step of GPI biosynthesis, could be a strong candidate gene for CDH. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>