ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2024-10-17 DOI:10.1016/j.ejmg.2024.104978

Makoto Arioka , Shinji Nakamura , Katsufumi Nishioka , Kota Inoue , Yasuhiro Nakao , Yumi Miyai , Hirosuke Morita , Kosuke Koyano , Toshiki Takenouchi , Saneyuki Yasuda , Yoichi Chiba , Takashi Iwase , Masaki Ueno , Takashi Kusaka

{"title":"ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation","authors":"Makoto Arioka , Shinji Nakamura , Katsufumi Nishioka , Kota Inoue , Yasuhiro Nakao , Yumi Miyai , Hirosuke Morita , Kosuke Koyano , Toshiki Takenouchi , Saneyuki Yasuda , Yoichi Chiba , Takashi Iwase , Masaki Ueno , Takashi Kusaka","doi":"10.1016/j.ejmg.2024.104978","DOIUrl":null,"url":null,"abstract":"<div><div>Bohring-Opitz syndrome (BOS) is a rare disease with a characteristic facial appearance and limb position. This report describes a case of BOS complicated by persistent pulmonary hypertension of the newborn (PPHN) and formation of abnormal alveoli that was confirmed by autopsy. A female neonate was born by cesarean section at 37 weeks and 2 days of gestation and found to have a nevus flammeus, exophthalmos, abnormal palate, retraction of the mandible, and a posture characteristic of BOS. The patients had severe PPHN requiring inhalation of nitric oxide. Genetic testing revealed a <em>de novo</em> frameshift variant in <em>ASXL1</em>. Autopsy revealed that the lung was at the saccular stage, equivalent to 28–34 weeks of gestation. This is the first report to present pathological evidence of immaturity of the lung that may be associated with PPHN in a patient with BOS caused by a variant in <em>ASXL1</em>.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104978"},"PeriodicalIF":1.6000,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of medical genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1769721224000703","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Bohring-Opitz syndrome (BOS) is a rare disease with a characteristic facial appearance and limb position. This report describes a case of BOS complicated by persistent pulmonary hypertension of the newborn (PPHN) and formation of abnormal alveoli that was confirmed by autopsy. A female neonate was born by cesarean section at 37 weeks and 2 days of gestation and found to have a nevus flammeus, exophthalmos, abnormal palate, retraction of the mandible, and a posture characteristic of BOS. The patients had severe PPHN requiring inhalation of nitric oxide. Genetic testing revealed a de novo frameshift variant in ASXL1. Autopsy revealed that the lung was at the saccular stage, equivalent to 28–34 weeks of gestation. This is the first report to present pathological evidence of immaturity of the lung that may be associated with PPHN in a patient with BOS caused by a variant in ASXL1.

查看原文本刊更多论文

与 ASXL1 相关的波林-奥普蒂兹综合征并发持续性新生儿肺动脉高压和肺泡形成异常。

波林-奥皮茨综合征（BOS）是一种罕见疾病，具有特征性的面部外观和肢体位置。本报告描述了一例因新生儿持续性肺动脉高压（PPHN）和异常肺泡的形成而并发的 BOS 病例，该病例经尸检证实。一名女性新生儿在妊娠 37 周零 2 天时剖宫产出生，被发现有火焰痣、眼球外翻、腭部异常、下颌骨后缩以及 BOS 特征性姿势。患者有严重的 PPHN，需要吸入一氧化氮。基因检测显示，ASXL1存在一个新的框架移位变异。尸检显示肺部处于囊肿期，相当于妊娠 28-34 周。这是首例报告因ASXL1基因变异而导致BOS的患者肺部不成熟并可能与PPHN有关的病理证据。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.