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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