Birth defects research · 2018
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.
Клинический случайПоддержка исследования: вне правительства СШАСтатьяНазвание и аннотация: Перевод в очереди
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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
Аннотация
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 heterozygous mutations in a family where three pregnancies were terminated because a severe fetal microcephaly was diagnosed. An autopsy performed on the second sib showed moderate growth restriction and a microcephaly with simplified gyral pattern. The histopathological study discovered a malformed cortical plate.
CONCLUSIONS: The present study confirms the involvement of RTTN gene mutations in microcephaly with simplified gyral pattern and describes the observed abnormal neuropathological findings.
CASE: A targeted exome sequencing of morbid genes causing cerebral malformations identified novel RTTN compound heterozygous mutations in a family where three pregnancies were terminated because a severe fetal microcephaly was diagnosed. An autopsy performed on the second sib showed moderate growth restriction and a microcephaly with simplified gyral pattern. The histopathological study discovered a malformed cortical plate.
CONCLUSIONS: The present study confirms the involvement of RTTN gene mutations in microcephaly with simplified gyral pattern and describes the observed abnormal neuropathological findings.