Phenotypic Expansion of TBX4 Mutations to Include Acinar Dysplasia of the Lungs

作者：Szafranski Przemyslaw; Coban Akdemir Zeynep H; Rupps Rosemarie; Grazioli Serge; Wensley David; Jhangiani Shalini N; Popek Edwina; Lee Anna F; Lupski James R; Boerkoel Cornelius F; Stankiewicz Pawel^*

来源：American Journal of Medical Genetics, Part A, 2016, 170(9): 2440-2444.

DOI：10.1002/ajmg.a.37822

• T-box transcription factor
• lung mesenchyme
• pulmonary hypoplasia
• congenital anomaly

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.

• 出版日期2016-9