Abstract
BackgroundInfantile nystagmus (IN) is an oculomotor disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus.MethodsWe conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a family with X-linked IN and 100 normal controls. Mutations in FRMD7 were identified by sequencing PCR products.ResultsWe found a 7-bp deletion(c.823-829delACCCTAC) in the 9th exon of FRMD7 in a Chinese family with IN, which predicted a truncation of the protein.ConclusionsThis study reported a novel mutation of the FRMD7 gene occurred in a Chinese family with IN, thus expanding the spectrum of FRMD7 mutations causing IN, and further confirming that the mutations of FRMD7 are the underlying molecular cause of IN.
Highlights
Infantile nystagmus (IN) is an oculomotor disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes
All IN patients we examined presented nystagmus within the first six months of life, conjugate horizontal oscillation of the eyes, reduced visual acuity and stereopsis
The mean LogMAR binocular visual acuity measured at both their AHP and corrected head posture was 0.25 and 0.37, respectively
Summary
Infantile nystagmus(IN) is an oculomotor disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. A common consequence of IN is reduced visual acuity. Most patients have a null zone--a gaze angle where they have their best visual acuity. To use this gaze angle, they will turn their head in the opposite direction of the null zone (Anomalous head posture, AHP). Many patients show an X-linked inheritance pattern. FERM domain-containing 7(FRMD7) and G-protein coupled receptor 143 (GPR143), have been. We found a 7-bp deletion(c.823-829delACCCTAC) in the 9th exon of FRMD7 in a Chinese family with IN, which predicted a truncated protein. Our data expands the spectrum of FRMD7 mutations causing IN
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