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Physician Research
Abnormal cerebellar development and axonal decussation
due to mutations in AHI1 in Joubert Syndrome
by Russell J. Ferland, Wafaa Eyaid, Randall V. Collura,
Laura D. Tully, R. Sean Hill, Doha Al-Nouri, Ahmed Al-Rumayyan,
Meral Topcu, Generoso Gascon, Adria Bodell, Yin Yao
Shugart, Maryellen Ruvolo, Christopher A. Walsh
Joubert Syndrome Foundation & Related Cerebellar
Disorders
Researchers at Harvard Medical School, Beth Israel
Deaconess Medical Center, and Howard Hughes Medical
Institute, in collaboration with clinicians in Saudi
Arabia and Turkey have identified one of the genes that
cause Joubert syndrome. By studying 8 individuals with
classic Joubert syndrome (without renal abnormalities)
from 5 consanguineous families from the Middle East, we
identified an area of linkage to chromosome 6, which
also was previously reported by the laboratories of
Michel Koenig (France), Dr. Brejvik (Norway), and Dr.
Eugen Boltshauser (Switzerland) earlier this year. We
then identified homozygous mutations in the Abelson
helper integration site gene (AHI1) in individuals with
Joubert syndrome in 3 of the 5 families. To date, there
is only 1 published paper on AHI1 therefore our
understanding of this gene and its function is limited.
We are now focusing on determining the role of this gene
in causing the developmental brain abnormalities
associated with Joubert syndrome. Through the Joubert
Syndrome Foundation, our goal is to enroll any
interested families in our research of the AHI1 gene.
Currently, we are in the process of trying to determine
how many individuals with Joubert syndrome have
mutations in AHI1. It is our hope that further study of
the AHI1 gene will lead to improved diagnosis and
understanding of Joubert syndrome.
A copy of our paper is on our laboratory website:
http://walshlab.org/publications.html
Authors: Russell J. Ferland, Wafaa Eyaid, Randall V.
Collura, Laura D. Tully, R. Sean Hill, Doha Al-Nouri,
Ahmed Al-Rumayyan, Meral Topcu, Generoso Gascon, Adria
Bodell, Yin Yao Shugart, Maryellen Ruvolo, Christopher
A. Walsh
Published in Nature Genetics, August 22, 2004
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