Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.
Front Pediatr
; 11: 1326552, 2023.
Article
em En
| MEDLINE
| ID: mdl-38178912
ABSTRACT
Rotatin, encoded by the RTTN gene, is a centrosomal protein with multiple, emerging functions, including left-right specification, ciliogenesis, and neuronal migration. Recessive variants in RTTN are associated with a neurodevelopmental disorder with microcephaly and malformations of cortical development known as "Microcephaly, short stature, and polymicrogyria with seizures" (MSSP, MIM #614833). Affected individuals show a wide spectrum of clinical manifestations like intellectual disability, poor/absent speech, short stature, microcephaly, and congenital malformations. Here, we report a subject showing a distinctive neuroradiological phenotype and harboring novel biallelic variants in RTTN the c.5500A>G, p.(Asn1834Asp), (dbSNP rs200169343, ClinVar ID1438510) and c.19A>G, p.(Ile7Val), (dbSNP rs201165599, ClinVar ID1905275) variants. In particular brain magnetic resonance imaging (MRI) showed a peculiar pattern, with cerebellar hypo-dysplasia, and multiple arachnoid cysts in the lateral cerebello-medullary cisterns, in addition to left Meckel cave. Thus, we compare his phenotypic features with current literature, speculating a possible role of newly identified RTTN variants in his clinical picture, and supporting a relevant variability in this emerging condition.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Front Pediatr
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Itália