Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality

Kenjiro Kosaki, Kazushige Ikeda, Kei Miyakoshi, Mari Ueno, Rika Kosaki, Daisuke Takahashi, Mamoru Tanaka, Chikao Torikata, Yasunori Yoshimura, Takao Takahashi

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

We report a family in which a healthy, unrelated couple had a male fetus with bilateral ventriculomegaly, a normal liveborn girl, a hydatidiform molar pregnancy, a female fetus with ventriculomegaly and situs abnormalities, and a male fetus with hydrocephalus, a three-lobed left lung, and defective tracheal cilia with absent inner dynein arms and a single centriole. A mutation analysis of FOXJ1 and POLL in the last fetus with ciliary defect revealed no mutation within their coding regions. The presence of three affected fetuses of both sexes in a family with phenotypically normal parents suggests that the condition was inherited as an autosomal recessive trait. A thorough evaluation of the thoracic and abdominal situs is recommended before counseling a family of a child with hydrocephalus, because the recognition of situs defects may point to the diagnosis of primary ciliary defect and recurrence risk of 25% for siblings. This figure is much higher than the general risk of 1-2% for siblings of a patient with isolated hydrocephalus.

Original languageEnglish
Pages (from-to)308-311
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume129 A
Issue number3
DOIs
Publication statusPublished - 2004 Sep 1

Fingerprint

Dyneins
Hydrocephalus
Fetus
Siblings
Centrioles
Hydatidiform Mole
Mutation
Cilia
Counseling
Thorax
Parents
Recurrence
Lung

Keywords

  • Cilia
  • Genetic counseling
  • Kartagener syndrome
  • Ventriculomegaly

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. / Kosaki, Kenjiro; Ikeda, Kazushige; Miyakoshi, Kei; Ueno, Mari; Kosaki, Rika; Takahashi, Daisuke; Tanaka, Mamoru; Torikata, Chikao; Yoshimura, Yasunori; Takahashi, Takao.

In: American Journal of Medical Genetics, Vol. 129 A, No. 3, 01.09.2004, p. 308-311.

Research output: Contribution to journalArticle

Kosaki, Kenjiro ; Ikeda, Kazushige ; Miyakoshi, Kei ; Ueno, Mari ; Kosaki, Rika ; Takahashi, Daisuke ; Tanaka, Mamoru ; Torikata, Chikao ; Yoshimura, Yasunori ; Takahashi, Takao. / Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. In: American Journal of Medical Genetics. 2004 ; Vol. 129 A, No. 3. pp. 308-311.
@article{332543a877754748b02aa50ccdc0c2c9,
title = "Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality",
abstract = "We report a family in which a healthy, unrelated couple had a male fetus with bilateral ventriculomegaly, a normal liveborn girl, a hydatidiform molar pregnancy, a female fetus with ventriculomegaly and situs abnormalities, and a male fetus with hydrocephalus, a three-lobed left lung, and defective tracheal cilia with absent inner dynein arms and a single centriole. A mutation analysis of FOXJ1 and POLL in the last fetus with ciliary defect revealed no mutation within their coding regions. The presence of three affected fetuses of both sexes in a family with phenotypically normal parents suggests that the condition was inherited as an autosomal recessive trait. A thorough evaluation of the thoracic and abdominal situs is recommended before counseling a family of a child with hydrocephalus, because the recognition of situs defects may point to the diagnosis of primary ciliary defect and recurrence risk of 25{\%} for siblings. This figure is much higher than the general risk of 1-2{\%} for siblings of a patient with isolated hydrocephalus.",
keywords = "Cilia, Genetic counseling, Kartagener syndrome, Ventriculomegaly",
author = "Kenjiro Kosaki and Kazushige Ikeda and Kei Miyakoshi and Mari Ueno and Rika Kosaki and Daisuke Takahashi and Mamoru Tanaka and Chikao Torikata and Yasunori Yoshimura and Takao Takahashi",
year = "2004",
month = "9",
day = "1",
doi = "10.1002/ajmg.a.30177",
language = "English",
volume = "129 A",
pages = "308--311",
journal = "American Journal of Medical Genetics",
issn = "1552-4868",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality

AU - Kosaki, Kenjiro

AU - Ikeda, Kazushige

AU - Miyakoshi, Kei

AU - Ueno, Mari

AU - Kosaki, Rika

AU - Takahashi, Daisuke

AU - Tanaka, Mamoru

AU - Torikata, Chikao

AU - Yoshimura, Yasunori

AU - Takahashi, Takao

PY - 2004/9/1

Y1 - 2004/9/1

N2 - We report a family in which a healthy, unrelated couple had a male fetus with bilateral ventriculomegaly, a normal liveborn girl, a hydatidiform molar pregnancy, a female fetus with ventriculomegaly and situs abnormalities, and a male fetus with hydrocephalus, a three-lobed left lung, and defective tracheal cilia with absent inner dynein arms and a single centriole. A mutation analysis of FOXJ1 and POLL in the last fetus with ciliary defect revealed no mutation within their coding regions. The presence of three affected fetuses of both sexes in a family with phenotypically normal parents suggests that the condition was inherited as an autosomal recessive trait. A thorough evaluation of the thoracic and abdominal situs is recommended before counseling a family of a child with hydrocephalus, because the recognition of situs defects may point to the diagnosis of primary ciliary defect and recurrence risk of 25% for siblings. This figure is much higher than the general risk of 1-2% for siblings of a patient with isolated hydrocephalus.

AB - We report a family in which a healthy, unrelated couple had a male fetus with bilateral ventriculomegaly, a normal liveborn girl, a hydatidiform molar pregnancy, a female fetus with ventriculomegaly and situs abnormalities, and a male fetus with hydrocephalus, a three-lobed left lung, and defective tracheal cilia with absent inner dynein arms and a single centriole. A mutation analysis of FOXJ1 and POLL in the last fetus with ciliary defect revealed no mutation within their coding regions. The presence of three affected fetuses of both sexes in a family with phenotypically normal parents suggests that the condition was inherited as an autosomal recessive trait. A thorough evaluation of the thoracic and abdominal situs is recommended before counseling a family of a child with hydrocephalus, because the recognition of situs defects may point to the diagnosis of primary ciliary defect and recurrence risk of 25% for siblings. This figure is much higher than the general risk of 1-2% for siblings of a patient with isolated hydrocephalus.

KW - Cilia

KW - Genetic counseling

KW - Kartagener syndrome

KW - Ventriculomegaly

UR - http://www.scopus.com/inward/record.url?scp=4444273131&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=4444273131&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.30177

DO - 10.1002/ajmg.a.30177

M3 - Article

C2 - 15326634

AN - SCOPUS:4444273131

VL - 129 A

SP - 308

EP - 311

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

SN - 1552-4868

IS - 3

ER -