Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

TitlePhenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Publication TypeJournal Article
Year of Publication2016
AuthorsSzafranski, P, Coban-Akdemir, ZH, Rupps, R, Grazioli, S, Wensley, D, Jhangiani, SN, Popek, E, Lee, AF, Lupski, JR, Boerkoel, CF, Stankiewicz, P
JournalAm J Med Genet A
Date Published2016 Sep
KeywordsAlleles, Autopsy, Chromosomes, Human, Pair 16, DNA Copy Number Variations, DNA Mutational Analysis, Fatal Outcome, Female, Genetic Association Studies, Genotype, Heterozygote, Humans, Infant, Newborn, Karyotype, Lung, Mutation, Pedigree, Phenotype, Radiography, Thoracic, T-Box Domain Proteins

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.

Alternate JournalAm J Med Genet A
PubMed ID27374786
Grant ListR01 HL101975 / HL / NHLBI NIH HHS / United States

Similar Publications