Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Date
2015
Author
Phelps, I. G.
RAMADEVI, Radha A.
Tuysuz, Beyhan
ALSWAID, A.
Ozyurek, H.
Haliloglu, G.
Topcu, M.
Chance, P.
PARISI, M. A.
Glass, I. A.
Bachmann-Gagescu, R.
Dempsey, J. C.
O'Day, D.
de Lacy, N.
Boyle, E. A.
ADKINS, J.
GORDEN, N.
Isabella, C. R.
ISHAK, G. E.
Rue, T. C.
KNUTZEN, D. M.
O'ROAK, B. J.
Shendure, J.
Doherty, D.
LINGAPPA, L.
Lourenco, C.
MARTORELL, L.
GARCIA-CAZORLA, A.
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Abstract
Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability and genetic heterogeneity. This study provides a comprehensive view of the current genetic basis, phenotypic range and gene-phenotype associations in JS.
URI
http://hdl.handle.net/20.500.12627/114414
https://doi.org/10.1136/jmedgenet-2015-103087
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