The detailed obstetric course of the first Japanese patient with AEBP1‐related Ehlers–Danlos syndrome (classical‐like EDS, type 2)

We reported a detailed obstetric course of a Japanese patient with Ehlers–Danlos syndrome (EDS) caused by biallelic pathogenic variants in the AEBP1 gene. She was diagnosed with classical EDS at 3 years of age. At 33 years, whole‐exome sequencing revealed a homozygous nonsense variant (c.1894C > ...

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Published in:The journal of obstetrics and gynaecology research 2023-03, Vol.49 (3), p.1043-1047
Main Authors: Sanai, Hiromi, Nakamura, Yasuhiko, Koike, Yuta, Murota, Hiroyuki, Kosho, Tomoki, Sase, Masakatsu
Format: Article
Language:English
Subjects:
AEBP1
Carboxypeptidases
Cesarean Section
Connective tissue diseases
East Asian People
Ehlers-Danlos syndrome
Ehlers-Danlos Syndrome - genetics
Female
Genetic disorders
Gestation
Humans
Obstetric Labor, Premature
Pregnancy
Pregnancy Complications
recessive
Repressor Proteins
whole‐exome sequencing
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Summary:We reported a detailed obstetric course of a Japanese patient with Ehlers–Danlos syndrome (EDS) caused by biallelic pathogenic variants in the AEBP1 gene. She was diagnosed with classical EDS at 3 years of age. At 33 years, whole‐exome sequencing revealed a homozygous nonsense variant (c.1894C > T:p.Arg632*) in AEBP1. This is the 10th case of AEBP1‐related EDS (classical‐like EDS type 2) and the first in Japan. She was managed as an inpatient at our hospital beginning at 20 weeks of gestation because of the possibility of high‐risk pregnancy. She experienced painful urinary retention, migraines, and threatened premature labor. She delivered a healthy female via elective caesarean section at 32 weeks of gestation. She was treated in the intensive care unit for severe paralytic ileus, postoperatively. Conservative therapy resulted in favorable outcomes, and she was safely discharged on postdelivery day 22nd.
ISSN:1341-8076
1447-0756
DOI:10.1111/jog.15541