Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?

Maria Piccione, Aurora Puglisi, Federico Matina, Maria Lapi, Martina Buse'

Risultato della ricerca: Article


'e causes of embryological developmental anomalies leading to laryngotracheoesophageal clefts (LTECs) are notknown, but are proposed to be multifactorial, including genetic and environmental factors. Haploinsufficiency ofthe RERE gene might contribute to different phenotypes seen in individuals with 1p36 deletions. We describe a neonate ofan obese mother, diagnosed with type IV LTEC and type III esophageal atresia (EA), in which a 1p36 deletion includingthe RERE gene was detected. On the second day of life, a right thoracotomy and extrapleural esophagus atresiarepair were attempted. One week later, a right cervical approach was performed to separate the cervical esophagusfrom the trachea. 'ree months later, a thoracic termino-terminal anastomosis of the esophagus was performed. Ananterior fundoplication was required at 8 months of age due to severe gastroesophageal reflux and failure to thrive. Acausal role of 1p36 deletions including the RERE gene in the malformation is proposed. Moreover, additional parentalfactors must be considered. Future studies are mandatory to elucidate genomic and epigenomic susceptibility factors that underlie these congenital malformations. A multiteam approach is a crucial factor in the successful management of affected patients.
Lingua originaleEnglish
pagine (da-a)1-5
Numero di pagine5
Stato di pubblicazionePublished - 2018


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