Neonatal Lung Disease Associated with TBX4 Mutations.

Suhrie, Kristen; Pajor, Nathan M; Ahlfeld, Shawn K; Dawson, D Brian; Dufendach, Kevin R; Kitzmiller, Joseph A; Leino, Daniel; Lombardo, Rachel C; Smolarek, Teresa A; Rathbun, Pamela A; Whitsett, Jeffrey A; Towe, Christopher; Wikenheiser-Brokamp, Kathryn A

Suhrie, Kristen; Pajor, Nathan M; Ahlfeld, Shawn K; Dawson, D Brian; Dufendach, Kevin R; Kitzmiller, Joseph A; Leino, Daniel; Lombardo, Rachel C; Smolarek, Teresa A; Rathbun, Pamela A; Whitsett, Jeffrey A; Towe, Christopher; Wikenheiser-Brokamp, Kathryn A.

Afiliação

Suhrie K; Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.
Pajor NM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Ahlfeld SK; Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.
Dawson DB; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Divison of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH.
Dufendach KR; Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Department of Biomedical Informatics, University of Cincinnati College of Medicine, Cincinnati, O
Kitzmiller JA; Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Leino D; Department of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pathology & Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Lombardo RC; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Divison of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Smolarek TA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Divison of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Rathbun PA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Divison of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Whitsett JA; Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.
Towe C; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Wikenheiser-Brokamp KA; Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pathology & Laboratory Medicine, Cincinnati Children's H

J Pediatr ; 206: 286-292.e1, 2019 03.

Article em En | MEDLINE | ID: mdl-30413314

ABSTRACT

ABSTRACT

Variable lung disease was documented in 2 infants with heterozygous TBX4 mutations; their clinical presentations, pathology, and outcomes were distinct. These findings demonstrate that TBX4 gene mutations are associated with neonatal respiratory failure and highlight the wide spectrum of clinicopathological outcomes that have implications for patient diagnosis and management.

Assuntos

Mutação/genética; Insuficiência Respiratória/genética; Insuficiência Respiratória/patologia; Proteínas com Domínio T/genética; Feminino; Humanos; Recém-Nascido; Masculino

Palavras-chave

ABCA3; T-box transcription factor; TBX2; TBX4; congenital alveolar dysplasia; congenital anomaly; lung development; pulmonary hypoplasia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Insuficiência Respiratória / Proteínas com Domínio T / Mutação Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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