Revista de neurologia · 2015
[Intragenic deletions of NRXN1: three new case reports and a review of the phenotype].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Galán-Sánchez Francisco, Esteban-Cantó Vanessa, Blaya-Fernández Pedro, Jadraque-Rodríguez Rocío, Manchón-Trives Irene, Alcaraz-Más Luis
Аннотация
AIM: To offer data on the phenotype determined by microdeletions of alpha exons in the NRXN1 gene.
CASE REPORTS: Three neuropaediatric cases of intragenic microdeletions of NRXN1 alpha are studied. The phenotype of these three cases is unspecific, with mild-moderate mental retardation, behavioural disorders and slight dysmorphic traits or malformations.
CONCLUSIONS: The phenotype found in the microdeletions of alpha exons of the NRXN1 gene is clearly distinguishable from the one found in the microdeletions of beta exons, with macrocephaly, epilepsy and mental retardation.
CASE REPORTS: Three neuropaediatric cases of intragenic microdeletions of NRXN1 alpha are studied. The phenotype of these three cases is unspecific, with mild-moderate mental retardation, behavioural disorders and slight dysmorphic traits or malformations.
CONCLUSIONS: The phenotype found in the microdeletions of alpha exons of the NRXN1 gene is clearly distinguishable from the one found in the microdeletions of beta exons, with macrocephaly, epilepsy and mental retardation.