| Title | Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. |
| Publication Type | Journal Article |
| Year of Publication | 2016 |
| Authors | Szafranski, P, Coban-Akdemir, ZH, Rupps, R, Grazioli, S, Wensley, D, Jhangiani, SN, Popek, E, Lee, AF, Lupski, JR, Boerkoel, CF, Stankiewicz, P |
| Journal | Am J Med Genet A |
| Volume | 170 |
| Issue | 9 |
| Pagination | 2440-4 |
| Date Published | 2016 Sep |
| ISSN | 1552-4833 |
| Keywords | Alleles, 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 |
| 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.
|
| DOI | 10.1002/ajmg.a.37822 |
| Alternate Journal | Am J Med Genet A |
| PubMed ID | 27374786 |
| Grant List | R01 HL101975 / HL / NHLBI NIH HHS / United States |