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A FRMD7 variant in a Japanese family causes congenital nystagmus
- Source :
- Human Genome Variation
- Publication Year :
- 2015
- Publisher :
- Springer Science and Business Media LLC, 2015.
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Abstract
- Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN.
Details
- ISSN :
- 2054345X
- Volume :
- 2
- Database :
- OpenAIRE
- Journal :
- Human Genome Variation
- Accession number :
- edsair.doi.dedup.....d32f22a6fee3be0d7e9147e993319dd2