RESUMEN
Individuals carrying biallelic loss-of-function mutations in PCDH12 have been reported with three different conditions: the diencephalic-mesencephalic junction dysplasia syndrome 1 (DMJDS1), a disorder characterized by global developmental delay, microcephaly, dystonia, and a midbrain malformation at the diencephalic-mesencephalic junction; cerebral palsy combined with a neurodevelopmental disorder; and cerebellar ataxia with retinopathy. We report an additional patient carrying a homozygous PCDH12 frameshift, whose anamnesis combines the most recurrent DMJDS1 clinical features, that is, global developmental delay, microcephaly, and ataxia, with exudative vitreoretinopathy. This case and previously published DMJDS1 patients presenting with nonspecific visual impairments and ophthalmic disorders suggest that ophthalmic alterations are an integral part of clinical features associated with PCDH12 loss-of-function.
Asunto(s)
Ataxia/genética , Cadherinas/genética , Discapacidades del Desarrollo/genética , Microcefalia/genética , Adolescente , Adulto , Ataxia/diagnóstico , Ataxia/patología , Niño , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/patología , Diencéfalo/diagnóstico por imagen , Diencéfalo/patología , Femenino , Homocigoto , Humanos , Mutación con Pérdida de Función/genética , Masculino , Microcefalia/diagnóstico , Microcefalia/patología , Malformaciones del Sistema Nervioso/diagnóstico , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/patología , Linaje , Protocadherinas , Enfermedades de la Retina/diagnóstico por imagen , Enfermedades de la Retina/genética , Enfermedades de la Retina/patologíaRESUMEN
We report the case of an otherwise healthy 10-year-old girl referred to our institution for gradually decreasing vision and nyctalopia. Based on clinical examination, she was diagnosed with inherited retinal dystrophy, presumably due to enhanced S-cone syndrome (ESCS). Subsequent genetic testing confirmed a rare combination of NR2E3 heterozygous mutations: c.119-2A>C and c.932G>A p.(Arg311Gln).