The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus

A recently described subtype of foveal hypoplasia with congenital nystagmus and optic-nerve-decussation defects was found to be associated with mutations in the SLC38A8 gene. The aim of this study is to advance the clinical and molecular knowledge of SLC38A8 gene mutations. Five Israeli families wit...

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Veröffentlicht in:	Experimental eye research 2020-04, Vol.193, p.107958-107958, Article 107958
Hauptverfasser:	Weiner, Chen, Hecht, Idan, Rotenstreich, Ygal, Guttman, Sharon, Or, Lior, Morad, Yair, Shapira, Guy, Shomron, Noam, Pras, Eran
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Amino Acid Transport Systems, Neutral - genetics Amino Acid Transport Systems, Neutral - metabolism Child Child, Preschool DNA - genetics Female FHONDA syndrome Fovea Centralis - pathology Foveal hypoplasia FVH2 Humans Infant Karaite jews Male Middle Aged Nystagmus, Congenital - diagnosis Nystagmus, Congenital - genetics Nystagmus, Congenital - metabolism Optic Nerve - metabolism Optic Nerve - pathology Pedigree Phenotype Polymorphism, Single Nucleotide SLC38A8 Tomography, Optical Coherence Young Adult
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