title: Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
abstract: Mutations in the T-box transcription factor TBX4 gene have been reported in patients with Ischiocoxopodopatellar syndrome (MIM# 147891) and childhood-onset pulmonary arterial hypertension. Whole exome sequencing of DNA from a 1 day old deceased newborn, with severe diffuse developmental lung disorder exhibiting features of acinar dysplasia, and her unaffected parents identified a de novo TBX4 missense mutation p.E86Q (c.256G>C) in the DNA-binding T-box domain. We propose phenotypic expansion of the TBX4-related clinical disease spectrum to include acinar dysplasia of the lungs. The reported mutation is the first identified genetic variant causative for acinar dysplasia. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Przemyslaw
authors.initials: P
authors.lastname: Szafranski
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Zeynep H
authors.initials: ZH
authors.lastname: Coban-Akdemir
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Rupps
authors.affiliation: Department of Pediatrics, University of British Columbia, Vancouver, Canada.
authors.forename: Serge
authors.initials: S
authors.lastname: Grazioli
authors.affiliation: Department of Pediatrics, University of British Columbia, Vancouver, Canada.
authors.forename: David
authors.initials: D
authors.lastname: Wensley
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Shalini N
authors.initials: SN
authors.lastname: Jhangiani
authors.affiliation: Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas.
authors.forename: Edwina
authors.initials: E
authors.lastname: Popek
authors.affiliation: Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.
authors.forename: Anna F
authors.initials: AF
authors.lastname: Lee
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.|Department of Pediatrics, Baylor College of Medicine, Houston, Texas.|Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.|Texas Children's Hospital, Houston, Texas.
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Cornelius F
authors.initials: CF
authors.lastname: Boerkoel
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Paweł
authors.initials: P
authors.lastname: Stankiewicz
mesh_terms: D000483:Alleles; D001344:Autopsy; D002885:Chromosomes, Human, Pair 16; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D008168:Lung / Q000002:abnormalities* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D013902:Radiography, Thoracic; D020825:T-Box Domain Proteins / Q000235:genetics*
chemical_list: D020825:T-Box Domain Proteins; C491193:TBX4 protein, human
keywords: T-box transcription factor; congenital anomaly; lung mesenchyme; pulmonary hypoplasia