Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
Eur J Med Genet
; 61(12): 755-758, 2018 Dec.
Article
en En
| MEDLINE
| ID: mdl-30121372
ABSTRACT
Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. We identified, by trio based whole exome sequencing, a homozygous missense mutation in the RTTN gene (c.2953Aâ¯>â¯G; p.(Arg985Gly)) in one Moroccan patient from a consanguineous family. The patient showed early onset primary microcephaly, detected in the fetal period, postnatal growth restriction, encephalopathy with hyperkinetic movement disorders and self-injurious behavior with sleep disturbance. Brain MRI showed an extensive dysgyria associated with nodular heterotopia, large interhemispheric arachnoid cyst and corpus callosum hypoplasia.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Proteínas Portadoras
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Enanismo
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Polimicrogiria
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Microcefalia
Límite:
Child
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Child, preschool
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Female
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Humans
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Male
País como asunto:
Africa
Idioma:
En
Año:
2018
Tipo del documento:
Article