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

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2004-09, Vol.129A (3), p.308-311
Main Authors: Kosaki, Kenjiro, Ikeda, Kazushige, Miyakoshi, Kei, Ueno, Mari, Kosaki, Rika, Takahashi, Daisuke, Tanaka, Mamoru, Torikata, Chikao, Yoshimura, Yasunori, Takahashi, Takao
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Aborted Fetus
Cerebral Ventricles - abnormalities
cilia
Cilia - pathology
DNA-Binding Proteins - genetics
Dyneins - chemistry
Fatal Outcome
Forkhead Transcription Factors
genetic counseling
Humans
Hydrocephalus - pathology
Kartagener syndrome
Kartagener Syndrome - genetics
Kartagener Syndrome - metabolism
Kartagener Syndrome - pathology
Male
Sequence Analysis, DNA
Situs Inversus - pathology
Trans-Activators - genetics
ventriculomegaly
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Summary: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. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30177