病例报告：由BMPR2基因新突变引起的儿童肺动脉高压。

IF 2.1 3区医学 Q2 PEDIATRICS

Frontiers in Pediatrics Pub Date : 2025-05-27 eCollection Date: 2025-01-01 DOI:10.3389/fped.2025.1572733

Ting Tang, Shuqi Wu, Chang Peng, Li Wang

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引用次数: 0

摘要

肺动脉高压（PAH）是一种罕见而严重的疾病，与遗传因素有关。编码骨形态发生蛋白受体2 （BMPR2）的基因突变已被确定为遗传性多环芳烃的一个原因。我们报告在一名无遗传病家族史的11岁PAH患者的BMPR2基因中发现了一个新的点突变与缺失插入突变（C .621+2T b> C/ C .621+5_621+11delinsA）（临床试验编号：不适用）。该报告扩展了遗传景观，并为早期疾病检测，个性化治疗策略和遗传咨询提供了科学基础。

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Case Report: Pulmonary arterial hypertension in children caused by a new mutation in the BMPR2 gene.

Pulmonary arterial hypertension (PAH) is a rare and severe condition that has been linked to hereditary factors. Mutations in the gene encoding bone morphogenetic protein receptor 2 (BMPR2) have been identified as a cause of heritable PAH. We report the discovery of a novel point mutation combined with a deletion insertion mutation (c.621+2T>C/c.621+5_621+11delinsA) in the BMPR2 gene of an 11-year-old PAH patient lacking a family history of genetic disease (Clinical trial number: not applicable). This report expands the genetic landscape and offers a scientific foundation for early disease detection, personalized treatment strategies, and genetic counseling.

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来源期刊

Frontiers in Pediatrics Medicine-Pediatrics, Perinatology and Child Health

CiteScore

3.60

自引率

7.70%

发文量

2132

审稿时长

14 weeks

期刊介绍： Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.