A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.
Birth Defects Res
; 110(7): 598-602, 2018 04 17.
Article
em En
| MEDLINE
| ID: mdl-29356416
ABSTRACT
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Proteínas de Transporte
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Microcefalia
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article