Kanemura, Yonehiro

Nonaka, Masahiro

Sakamoto, Hiroaki

shohuda, Tomoko

Yamasaki, Mami

English

PubMed

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BioMed Central
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Cerebrospinal Fluid Research
Open AccessPoster presentation
Prenatal diagnosis of L1CAM gene mutations in X-linked 
hydrocephalus
Mami Yamasaki*1, Tomoko shohuda2, Hiroaki Sakamoto3, 
Masahiro Nonaka1 and Yonehiro Kanemura2
Address: 1Department of Neurosurgery, Osaka National Hospital, National hospital organization, 2-1-14 Hoenzaka, Chuo-ku, osaka city, Osaka, 
540-0006, Japan, 2Institute for clinical research, Osaka National Hospital, National hospital organization, 2-1-14 Hoenzaka, Chuo-ku, osaka city, 
Osaka, 540-0006, Japan and 3Department of Pediatric Neurosurgery, Osaka City General Hospital 2-13-22 Miyakojima-hondouri, Miyakojima-
ku, osaka city, Osaka, 534-0021, Japan
Email: Mami Yamasaki* - yamasaki@onh.go.jp
* Corresponding author    
Background
X-linked hydrocephalus (XLH) (severe type of human L1
syndrome) is now known to be due to mutations in the
gene for the neural cell adhesion molecule L1. We per-
formed prenatal diagnosis of L1CAM gene mutations in 5
families. We evaluated effective methods and discussed
contribution for the prenatal diagnosis of XLH.
Materials and methods
We performed a nation-wide L1 gene analysis of patients
with hydrocephalus and identified LI gene mutations
in36 families. In these families, five obligate careers were
pregnant subsequently and want to perform the L1CAM
gene analysis of their fetuses. Genomic DNA was extracted
from chorionic villus biopsy (CVB) at from 10 to 15
weeks' gestations. Amplification of the exons and the
exon-intron boundaries of the L1 gene was performed by
polymerase chain reaction (PCR) Purified PCR amplifica-
tion products were directly sequenced using the ABI
BigDye™ Terminator Cycle Sequencing Ready Reaction Kit
(Applied Biosystems) and analyzed with a capillary DNA
sequencer ABI PRISM® 310 Genetic Analyzer.
Results
1. Two fetuses were male and three were female. L1CAM
gene in two males did not have mutations. In three
females, one did not carry the mutation in L1CAM gene
and two female fetuses had the same L1CAM gene muta-
tion as his mother. 2. Five obligate careers continued their
pregnancy and delivered normal babies.
Conclusion
Prenatal L1gene analyses are useful for the prenatal diag-
nosis of X linked hydrocephalus.
from 50th Annual Meeting of the Society for Research into Hydrocephalus and Spina Bifida
Cambridge, UK. 30 August – 2 September 2006
Published: 21 December 2006
Cerebrospinal Fluid Research 2006, 3(Suppl 1):S47 doi:10.1186/1743-8454-3-S1-S47
<supplement> <title> <p>50th Annual Meeting of the Society for Research into Hydrocephalus and Spina Bifida</p> </title> <note>Meeting abstracts – A single PDF containing all abstracts in this supplement is available <a href="http://www.biomedcentral.com/content/files/pdf/1743-8454-3-S1-full.pdf ">here</a>.</note> </supplement>
© 2006 Yamasaki et al; licensee BioMed Central Ltd. 


Prenatal diagnosis of L1CAM gene mutations in X-linked hydrocephalus

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