Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome

被引：7

作者：

Kibe, Masaya ^{[1
]}

Ibara, Satoshi ^{[1
]}

Inagaki, Hidehito ^{[2
]}

Kato, Takema ^{[2
]}

Kurahashi, Hiroki ^{[2
]}

Ikeda, Toshiro ^{[3
]}

机构：

[1] Kagoshima City Hosp, Dept Neonatal Med, 37-1 Uearata Cho, Kagoshima 8908760, Japan

[2] Fujita Hlth Univ, Inst Comprehens Med Sci, Div Mol Genet, Toyoake, Aichi, Japan

[3] Kagoshima Univ Hosp, Genet Counseling Room, Kagoshima, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 05期

基金：

日本学术振兴会;

关键词：

ASXL1; Bohring-Opitz syndrome; circulation syndrome; congenital abnormalities; mutation; persistent fetal rare diseases; ASXL1; MUTATIONS; GENE;

D O I：

10.1002/ajmg.a.38681

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Bohring-Opitz syndrome (BOS) is a rare disease with a number of characteristic features, including hypertelorism, prominent metopic suture, exophthalmos, cleft palate, abnormal posture, and developmental retardation. Here, we report a BOS patient presenting with lethal persistent pulmonary hypertension of the newborn (PPHN) and inspiratory respiratory failure. The female infant was treated with nitric oxide and vasodilator, which did not improve her condition. The inspiratory respiratory failure required management with deep sedation. She died on postnatal day 60 due to progressed heart failure. Whole exome sequencing revealed de novo mutation in the ASXL1 gene, c.1934dupG, p.Gly646TrpfsTer12.

引用

页码：1245 / 1248

页数：4

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