Cargando…
Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report
BACKGROUND: Loeys–Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2). CASE PRESENTATION: We report a 7-year-old Japanese boy with Loeys–Dietz syndrome who carried a novel...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843563/ https://www.ncbi.nlm.nih.gov/pubmed/24220024 http://dx.doi.org/10.1186/1756-0500-6-456 |
_version_ | 1782293066412982272 |
---|---|
author | Uike, Kiyoshi Matsushita, Yuki Sakai, Yasunari Togao, Osamu Nagao, Michinobu Ishizaki, Yoshito Nagata, Hazumu Yamamura, Kenichiro Torisu, Hiroyuki Hara, Toshiro |
author_facet | Uike, Kiyoshi Matsushita, Yuki Sakai, Yasunari Togao, Osamu Nagao, Michinobu Ishizaki, Yoshito Nagata, Hazumu Yamamura, Kenichiro Torisu, Hiroyuki Hara, Toshiro |
author_sort | Uike, Kiyoshi |
collection | PubMed |
description | BACKGROUND: Loeys–Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2). CASE PRESENTATION: We report a 7-year-old Japanese boy with Loeys–Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P). He showed dysmorphic faces and skeletal malformations that were typical in previous cases with Loeys-Dietz syndrome. The cardiac studies disclosed the presence of markedly dilated aortic root and patent ductus aorteriosus. The cranial magnetic resonance imaging (MRI) and angiography (MRA) detected the tortuous appearances of the bilateral middle cerebral and carotid arteries. CONCLUSION: This study depicts the systemic vascular phenotypes of a child with Loeys–Dietz syndrome that were caused by a novel heterozygous mutation of TGFR2. A large cohort with serial imaging studies for vascular phenotypes will be useful for delineating the genotype-phenotype correlations of Loeys–Dietz syndrome. |
format | Online Article Text |
id | pubmed-3843563 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-38435632013-11-30 Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report Uike, Kiyoshi Matsushita, Yuki Sakai, Yasunari Togao, Osamu Nagao, Michinobu Ishizaki, Yoshito Nagata, Hazumu Yamamura, Kenichiro Torisu, Hiroyuki Hara, Toshiro BMC Res Notes Case Report BACKGROUND: Loeys–Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2). CASE PRESENTATION: We report a 7-year-old Japanese boy with Loeys–Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P). He showed dysmorphic faces and skeletal malformations that were typical in previous cases with Loeys-Dietz syndrome. The cardiac studies disclosed the presence of markedly dilated aortic root and patent ductus aorteriosus. The cranial magnetic resonance imaging (MRI) and angiography (MRA) detected the tortuous appearances of the bilateral middle cerebral and carotid arteries. CONCLUSION: This study depicts the systemic vascular phenotypes of a child with Loeys–Dietz syndrome that were caused by a novel heterozygous mutation of TGFR2. A large cohort with serial imaging studies for vascular phenotypes will be useful for delineating the genotype-phenotype correlations of Loeys–Dietz syndrome. BioMed Central 2013-11-12 /pmc/articles/PMC3843563/ /pubmed/24220024 http://dx.doi.org/10.1186/1756-0500-6-456 Text en Copyright © 2013 Uike et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Uike, Kiyoshi Matsushita, Yuki Sakai, Yasunari Togao, Osamu Nagao, Michinobu Ishizaki, Yoshito Nagata, Hazumu Yamamura, Kenichiro Torisu, Hiroyuki Hara, Toshiro Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report |
title | Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report |
title_full | Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report |
title_fullStr | Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report |
title_full_unstemmed | Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report |
title_short | Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report |
title_sort | systemic vascular phenotypes of loeys-dietz syndrome in a child carrying a de novo r381p mutation in tgfbr2: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843563/ https://www.ncbi.nlm.nih.gov/pubmed/24220024 http://dx.doi.org/10.1186/1756-0500-6-456 |
work_keys_str_mv | AT uikekiyoshi systemicvascularphenotypesofloeysdietzsyndromeinachildcarryingadenovor381pmutationintgfbr2acasereport AT matsushitayuki systemicvascularphenotypesofloeysdietzsyndromeinachildcarryingadenovor381pmutationintgfbr2acasereport AT sakaiyasunari systemicvascularphenotypesofloeysdietzsyndromeinachildcarryingadenovor381pmutationintgfbr2acasereport AT togaoosamu systemicvascularphenotypesofloeysdietzsyndromeinachildcarryingadenovor381pmutationintgfbr2acasereport AT nagaomichinobu systemicvascularphenotypesofloeysdietzsyndromeinachildcarryingadenovor381pmutationintgfbr2acasereport AT ishizakiyoshito systemicvascularphenotypesofloeysdietzsyndromeinachildcarryingadenovor381pmutationintgfbr2acasereport AT nagatahazumu systemicvascularphenotypesofloeysdietzsyndromeinachildcarryingadenovor381pmutationintgfbr2acasereport AT yamamurakenichiro systemicvascularphenotypesofloeysdietzsyndromeinachildcarryingadenovor381pmutationintgfbr2acasereport AT torisuhiroyuki systemicvascularphenotypesofloeysdietzsyndromeinachildcarryingadenovor381pmutationintgfbr2acasereport AT haratoshiro systemicvascularphenotypesofloeysdietzsyndromeinachildcarryingadenovor381pmutationintgfbr2acasereport |