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

Masaya Kibe, Satoshi Ibara, Hidehito Inagaki, Takema Kato, Hiroki Kurahashi, Toshiro Ikeda

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1245-1248
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number5
DOIs
Publication statusPublished - 01-05-2018

Fingerprint

Persistent Fetal Circulation Syndrome
Respiratory Insufficiency
Deep Sedation
Hypertelorism
Exome
Exophthalmos
Cleft Palate
Rare Diseases
Posture
Vasodilator Agents
Sutures
Nitric Oxide
Heart Failure
Mutation
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

@article{df13782fb9ba43ab8c23769cbb0b0032,
title = "Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome",
abstract = "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.",
author = "Masaya Kibe and Satoshi Ibara and Hidehito Inagaki and Takema Kato and Hiroki Kurahashi and Toshiro Ikeda",
year = "2018",
month = "5",
day = "1",
doi = "10.1002/ajmg.a.38681",
language = "English",
volume = "176",
pages = "1245--1248",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "5",

}

Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome. / Kibe, Masaya; Ibara, Satoshi; Inagaki, Hidehito; Kato, Takema; Kurahashi, Hiroki; Ikeda, Toshiro.

In: American Journal of Medical Genetics, Part A, Vol. 176, No. 5, 01.05.2018, p. 1245-1248.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome

AU - Kibe, Masaya

AU - Ibara, Satoshi

AU - Inagaki, Hidehito

AU - Kato, Takema

AU - Kurahashi, Hiroki

AU - Ikeda, Toshiro

PY - 2018/5/1

Y1 - 2018/5/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85045844682&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85045844682&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.38681

DO - 10.1002/ajmg.a.38681

M3 - Article

C2 - 29681105

AN - SCOPUS:85045844682

VL - 176

SP - 1245

EP - 1248

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 5

ER -