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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs
Author(s) -
Szafranski Przemyslaw,
CobanAkdemir Zeynep H.,
Rupps Rosemarie,
Grazioli Serge,
Wensley David,
Jhangiani Shalini N.,
Popek Edwina,
Lee Anna F.,
Lupski James R.,
Boerkoel Cornelius F.,
Stankiewicz Paweł
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37822
Subject(s) - missense mutation , exome sequencing , phenotype , dysplasia , biology , mutation , pathology , exome , lung , cancer research , gene , genetics , medicine
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.