Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.

German, Kendell; Deutsch, Gail H; Freed, Amanda S; Dipple, Katrina M; Chabra, Shilpi; Bennett, James T

German, Kendell; Deutsch, Gail H; Freed, Amanda S; Dipple, Katrina M; Chabra, Shilpi; Bennett, James T.

Afiliación

German K; Department of Pediatrics, University of Washington, Seattle, Washington.
Deutsch GH; Department of Pathology, Seattle Children's Hospital and University of Washington, Seattle, Washington.
Freed AS; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington.
Dipple KM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington.
Chabra S; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, Washington.
Bennett JT; Department of Pediatrics, University of Washington, Seattle, Washington.

Am J Med Genet A ; 179(5): 842-845, 2019 05.

Article en En | MEDLINE | ID: mdl-30828993

ABSTRACT

ABSTRACT

We describe a neonate with severe respiratory failure due to acinar dysplasia found by rapid exome sequencing (rES), to have a deletion containing the TBX4 gene. rES can affect patient management in the intensive care unit and should be considered in concert with lung biopsy in neonates with undifferentiated respiratory failure.

Asunto(s)

Células Acinares/metabolismo; Secuenciación del Exoma; Exoma; Enfermedades Pulmonares/diagnóstico; Enfermedades Pulmonares/genética; Eliminación de Secuencia; Proteínas de Dominio T Box/genética; Biopsia; Estudios de Asociación Genética; Predisposición Genética a la Enfermedad; Humanos; Inmunohistoquímica; Recién Nacido; Masculino

Palabras clave

TBX; acinar dysplasia; exome sequencing; neonatal respiratory failure

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Eliminación de Secuencia / Proteínas de Dominio T Box / Células Acinares / Exoma / Secuenciación del Exoma / Enfermedades Pulmonares Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article

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