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Article

Novel unconventional variants expand the allelic spectrum of OPHN1 gene.

American journal of medical genetics. Part A - 1 May 2021

Nuovo Sara, Brankovic Vesna, Caputi Caterina, Casella Antonella, Nigro Vincenzo, Leuzzi Vincenzo, Valente Enza Maria

Abstract excerpt

Mutations in the OPHN1 gene cause a rare X-linked recessive neurodevelopmental disorder characterized by intellectual disability, variably associated with cerebellar hypoplasia and distinctive facial appearance. In most of cases so far reported, the identified genomic variants involve the region encoding the central RhoGAP domain of the oligophrenin-1 protein, and are predicted to result in a complete loss of...

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Identifiers

PMID: 33638601
DOI: 10.1002/ajmg.a.62144

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