期刊
NATURE GENETICS
卷 38, 期 11, 页码 1242-1244出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1893
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资金
- Medical Research Council [G9826762, G9900837] Funding Source: researchfish
- MRC [G9826762, G9900837] Funding Source: UKRI
- Medical Research Council [G9900837, G9826762] Funding Source: Medline
- Wellcome Trust [050211] Funding Source: Medline
Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.
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