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Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2?
Vollbach, Kristina; Trepels-Kottek, Sonja; Elbracht, Miriam; Kurth, Ingo; Wagner, Norbert; Orlikowsky, Thorsten; Braunschweig, Till; Tenbrock, Klaus.
Afiliación
  • Vollbach K; Department of Pediatrics, RWTH Aachen University Hospital, Aachen, Germany. Electronic address: kvollbach@ukaachen.de.
  • Trepels-Kottek S; Department of Pediatrics, Division of Neonatology, RWTH Aachen University Hospital, Aachen, Germany.
  • Elbracht M; Institute of Human Genetics, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.
  • Kurth I; Institute of Human Genetics, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.
  • Wagner N; Department of Pediatrics, RWTH Aachen University Hospital, Aachen, Germany.
  • Orlikowsky T; Department of Pediatrics, Division of Neonatology, RWTH Aachen University Hospital, Aachen, Germany.
  • Braunschweig T; Institute of Pathology, RWTH Aachen University Hospital, Aachen, Germany.
  • Tenbrock K; Department of Pediatrics, RWTH Aachen University Hospital, Aachen, Germany.
Eur J Med Genet ; 64(6): 104209, 2021 Jun.
Article en En | MEDLINE | ID: mdl-33766794
We present a male infant with alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and macrosomia/macrocephaly at birth. Whole-exome sequencing revealed a homozygous 2bp-insertion in the latent transforming growth factor-beta binding protein 2 (LTBP2) (c.278_279dup, p.(Ser94Glyfs*187)). So far, LTBP2-variants have been frequently reported with an eye-restricted phenotype including primary congenital glaucoma and megalocornea/microspherphakia and ectopia lentis with/without secondary glaucoma. Hitherto reported systemic phenotypes showed, among others, features as tall stature, finger anomalies, high-arched palate and cardiovascular anomalies. The main pathophysiological finding of our patient was an alveolar capillary dysplasia (with pulmonary arterial hypertension and right ventricular impairment but without misalignment of pulmonary veins) resulting in almost continuous oxygen demand and prolonged dependence on mechanical ventilation. He died of respiratory failure at the age of seven months. This patient may extend the LTBP2-related phenotype with resulting diagnostic implications.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Circulación Fetal Persistente / Fenotipo / Alveolos Pulmonares / Enfermedad Cardiopulmonar / Enfermedades Hereditarias del Ojo / Glaucoma / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas de Unión a TGF-beta Latente Tipo de estudio: Risk_factors_studies Límite: Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Circulación Fetal Persistente / Fenotipo / Alveolos Pulmonares / Enfermedad Cardiopulmonar / Enfermedades Hereditarias del Ojo / Glaucoma / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas de Unión a TGF-beta Latente Tipo de estudio: Risk_factors_studies Límite: Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article Pais de publicación: Países Bajos