Molecular Cytogenetic characterization of an Interstitial De Novo 13q deletion in a 3-Month-Old with Severe Pediatric Gastroesophageal Reflux

Gastroesophageal reflux (GER) occurs when gastric contents travel back into the esophagus through the esophageal sphincter. GER is very common in infants with most growing out of it, but some continue to have chronic symptoms throughout childhood and adulthood. A gene for severe pediatric gastroesophageal reflux disease (GERD) was identified by linkage analysis and was mapped to chromosome 13. We report here a de novo interstitial deletion of chromosome 13 in a 3-month-old biracial male who presented to the emergency room with severe GER and failure to thrive. Chromosome analysis showed an interstitial deletion of chromosome 13, with the karyotype reported as 46, XY, del(13)(q12.3q14.1). BAC-FISH analysis demonstrated that the deletion encompasses 12.3 Mb and does involve the GERD1 locus. The GERD1 locus has been mapped to a 9-cM interval between the markers CAGR1 and D13S263, both of which are deleted in our patient. We propose that the GER phenotype in our patient is due to a haploinsufficiency of GERD1.