title: An intragenic deletion of the gene MNAT1 in a family with pectus deformities.
abstract: Pectus carinatum and excavatum have multiple genetic associations. We report on a novel association of these deformities in a 34-month-old male and his father, likely due to a small intragenic deletion of MNAT1 (ménage a trois 1 gene). Both individuals share a deletion of MNAT1 located at 14q23.1 and an interstitial duplication of CHRNA7 located at 15q13.3. Deletion of MNAT1 has been associated with connective tissue abnormalities and is likely the etiology of the malformations, whereas the duplication of CHNRA7 is unlikely related due to the lack of association with any such connective tissue abnormalities.
authors.affiliation: Department of Pediatrics, Genetics Division, Saint Louis University School of Medicine, St. Louis, Missouri.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Heithaus
authors.forename: Sandra
authors.initials: S
authors.lastname: Davenport
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Twyman
authors.forename: Erin E
authors.initials: EE
authors.lastname: Torti
authors.forename: Jacqueline R
authors.initials: JR
authors.lastname: Batanian
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D018797:Cell Cycle Proteins; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D019066:Facies; D005660:Funnel Chest / Q000175:diagnosis / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D010641:Phenotype; D017384:Sequence Deletion; D014157:Transcription Factors; D000095043:Cyclin-Dependent Kinase-Activating Kinase
chemical_list: D002352:Carrier Proteins; D018797:Cell Cycle Proteins; D014157:Transcription Factors; C514215:MNAT1 protein, human; D000095043:Cyclin-Dependent Kinase-Activating Kinase
keywords: 14q23.1 microdeletion syndrome; MNAT1 gene; pectus carinatum and excavatum