title: Microdeletion 11q13.1.q13.2 in a patient presenting with developmental delay, facial dysmorphism, and esophageal atresia: possible role of the GSTP1 gene in esophagus malformation.
abstract: BACKGROUND
  Esophageal atresia is a major congenital malformation characterized by a complete interruption of the esophageal continuity. It is frequently observed in associations and syndromes. As an isolated finding, it has a multifactorial etiology whose genetic factors are poorly known. Recently, the GST family, especially the GSTM1 null genotype (but not the GSTP1 polymorphism I105V), has been associated with esophageal atresia. These enzymes play a role in phase II detoxification of xenobiotics. Here we present the clinical and molecular findings observed in a patient suggesting that the loss of the GSTP1 allele might predispose to this malformation.
  
  
  METHODS
  We describe a patient presenting with esophageal atresia associated with developmental delay and facial dysmorphism, whose mother used tobacco and alcohol during the first 2 months of her pregnancy. Microdeletion/microduplication analysis was performed using comparative genomic hybridization and a 180K Agilent array. It detected a de novo 2 Mb chromosome 11q13.1.q13.2 deletion.
  
  
  CONCLUSIONS
  The deleted chromosomal segment includes the GSTP1 gene. We hypothesize that the deletion of one GSTP1 allele (an isoform highly expressed in embryonic tissues), associated with specific environmental factors, such as tobacco and alcohol, could cause the esophageal atresia observed in our patient.
authors.affiliation: Hospital de Clínicas, Faculdade de Medicina da Universidade de São Paulo, Instituto da Criança, Unidade de Genética, São Paulo, Brazil. tatifalmeida@gmail.com
authors.forename: Tatiana
authors.initials: T
authors.lastname: Ferreira de Almeida
authors.forename: Débora Romeo
authors.initials: DR
authors.lastname: Bertola
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000428:Alcohol Drinking / Q000009:adverse effects; D000483:Alleles; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D019465:Craniofacial Abnormalities; D002658:Developmental Disabilities / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D004933:Esophageal Atresia / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D019066:Facies; D005260:Female; D020022:Genetic Predisposition to Disease; D051549:Glutathione S-Transferase pi; D006801:Humans; D007223:Infant; D008297:Male; D009133:Muscular Atrophy / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D012907:Smoking / Q000009:adverse effects
chemical_list: D051549:Glutathione S-Transferase pi; C496557:Gstp1 protein, mouse