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SFTPC gene mutation p.R167Q in a premature infant
Author(s) -
Jon Cindy,
Nolan Paul K.,
Ekong Mfon,
Mosquera Ricardo A.,
Stark James M.
Publication year - 2014
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.22825
Subject(s) - medicine , mutation , gene , pediatrics , genetics , biology
Summary We present an infant who was born premature at 23 weeks gestation with bronchopulmonary dysplasia and a SFTPC gene mutation, p.R167Q, who had a complicated neonatal course requiring 4 months of mechanical ventilation. Over time, his clinical course has improved, and he only requires oxygen by nasal cannula and low dose hydroxychloroquine, suggesting that p.R167Q mutation contributed to his clinical course and may manifest with a variable disease pattern making long‐term prognostication difficult in the immediate newborn period. Pediatr Pulmonol. 2014; 49:E66–E68. © 2013 Wiley Periodicals, Inc.