期刊
ARCHIVES OF OPHTHALMOLOGY
卷 125, 期 9, 页码 1255-1263出版社
AMER MEDICAL ASSOC
DOI: 10.1001/archopht.125.9.1255
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资金
- MRC [G0501759] Funding Source: UKRI
- Medical Research Council [G0501759] Funding Source: Medline
- Medical Research Council [G0501759] Funding Source: researchfish
Objectives: To perform a genotype-phenotype correlation study in an X-linked congenital idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of the FRMD7 gene in congenital idiopathic nystagmus. Methods: Subjects from pedigree 1 underwent detailed clinical examination including nystagmology. Screening of FRMD7 was undertaken in pedigree 1 and in 37 other congenital idiopathic nystagmus probands and controls. Direct sequencing confirmed sequence changes. X-inactivation studies were performed in pedigree 1. Results: The nystagmus phenotype was extremely variable in pedigree 1. We identified 2 FRMD7 mutations. However, 80% of X- linked families and 96% of simplex cases showed no mutations. X- inactivation studies demonstrated no clear causal link between skewing and variable penetrance. Conclusions: We confirm profound phenotypic variation in X-linked congenital idiopathic nystagmus pedigrees. We demonstrate that other congenital nystagmus genes exist besides FRMD7. We show that the role of X inactivation in variable penetrance is unclear in congenital idiopathic nystagmus. Clinical Relevance: We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations. While FRMD7 mutations may be found in some cases of X-linked congenital idiopathic nystagmus, the diagnostic yield is low. X-inactivation assays are unhelpful as a test for carrier status for this disease.
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