title: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association.
abstract: We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, skin hyperpigmentation, and chronic lung disease. Some of his clinical manifestations were suggestive of dyskeratosis congenita (DC), while other features resembled IMAGe association. DC has been linked to mutations in telomere maintenance genes. The genetic basis of IMAGe association is unknown, although mice harboring a mutation in a telomere maintenance gene, Tpp1, have adrenal hypoplasia congenita. We considered the possibility that this patient has a defect in telomere function resulting in features of both DC and IMAGe association.
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA. mcdonald_s@wustl.edu
authors.forename: Sharon
authors.initials: S
authors.lastname: McDonald
authors.forename: David B
authors.initials: DB
authors.lastname: Wilson
authors.forename: Elena
authors.initials: E
authors.lastname: Pumbo
authors.forename: Shashikant
authors.initials: S
authors.lastname: Kulkarni
authors.forename: Philip J
authors.initials: PJ
authors.lastname: Mason
authors.forename: Tobias
authors.initials: T
authors.lastname: Else
authors.forename: Monica
authors.initials: M
authors.lastname: Bessler
authors.forename: Thomas
authors.initials: T
authors.lastname: Ferkol
authors.forename: Shalini
authors.initials: S
authors.lastname: Shenoy
mesh_terms: D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D019871:Dyskeratosis Congenita / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009006:Monosomy / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D000089804:Shelterin Complex; D012880:Skin Pigmentation / Q000235:genetics*; D019098:Telomerase / Q000235:genetics; D034501:Telomere-Binding Proteins
chemical_list: C495876:ACD protein, human; D000089804:Shelterin Complex; D034501:Telomere-Binding Proteins; C509186:TERT protein, human; D019098:Telomerase