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
en 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.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Encéfalo
/
Proteínas Portadoras
/
Microcefalia
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Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Año:
2018
Tipo del documento:
Article