|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|
|Date Published||2016 Sep|
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 Journal||Am. J. Med. Genet. A|