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Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome
Author(s) -
Kibe Masaya,
Ibara Satoshi,
Inagaki Hidehito,
Kato Takema,
Kurahashi Hiroki,
Ikeda Toshiro
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38681
Subject(s) - medicine , hypertelorism , respiratory failure , exome sequencing , pediatrics , pulmonary hypertension , heart failure , exophthalmos , cardiology , surgery , mutation , anatomy , genetics , biology , gene
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.