Article
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.
Birth defects research - 17 Apr 2018
Chartier Suzanne, Alby Caroline, Boutaud Lucile, Thomas Sophie, Elkhartoufi Nadia, Martinovic Jelena, Kaplan Josseline, Benachi Alexandra, Lacombe Didier, Sonigo Pascale, Drunat Séverine, Vekemans Michel, Agenor Joël, Encha Razavi Férechté, Attie-Bitach Tania
Abstract excerpt
BACKGROUND: The RTTN gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism. CASE: A targeted exome sequencing of morbid genes causing cerebral malformations identified novel RTTN compound...
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