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Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome
Author(s) -
Goumy Carole,
Laffargue Fanny,
EymardPierre Eléonore,
Kemeny Stéphen,
GayBellile Mathilde,
Gouas Laetiti,
Gallot Denis,
Francannet Christine,
Tchirkov Andrei,
PebrelRichard Céline,
Vago Philippe
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36840
Subject(s) - congenital diaphragmatic hernia , candidate gene , dysplasia , medicine , diaphragmatic breathing , diaphragmatic hernia , phenotype , microdeletion syndrome , pathology , pediatrics , hernia , biology , gene , genetics , surgery , pregnancy , fetus , alternative medicine
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. © 2014 Wiley Periodicals, Inc.