A Review of the Molecular Genetics of Congenital Idiopathic Nystagmus (CIN)

  title={A Review of the Molecular Genetics of Congenital Idiopathic Nystagmus (CIN)},
  author={James Self and Andrew John Lotery},
  journal={Ophthalmic Genetics},
  pages={187 - 191}
Congenital Idiopathic Nystagmus (CIN) is genetically heterogeneous. Autosomal dominant, autosomal recessive and X-linked patterns of inheritance have been reported. Linkage analysis has suggested the existence of at least three distinct loci for both autosomal dominant and X-linked forms, although only one disease gene has been identified (FRMD7, Xq26.2). The pathophysiological mechanisms underlying nystagmus are poorly understood but it is anticipated that characterization of the FRMD7 gene… 
A molecular-genetic study of Congenital Nystagmus.
This thesis describes a molecular genetic study of congenital nystagmus, a disorder of eye movement characterised by irregular, uncontrolled and repetitive eye movements, which contributed to the identification of the first gene for Congenital Idiopathic Nystag Mus (CIN).
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism
It is shown that the disease in the affected girl is due to skewed inactivation of the X chromosome, and the variable penetrance among females due to different types of mutation and to X-inactivation is discussed.
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.
This study showed that mutation analysis of the FRMD7 gene had diagnostic value not only in the Western population but also in one of the biggest Eastern populations, Chinese XLICN families.
A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus
A large Han-Chinese family which presents with various phenotypes from unaffected to manifested nystagmus in females, and hemizygous male affected subjects presented more severe manifestations compared to heterozygous female affected subjects, could enhance genetic counseling and antenatal diagnosis of IN.
Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3–q32.1
This study confirms and refines a novel locus for autosomal dominant CMN to chromosome 1q31.3–q32.1 and demonstrates its presence in the Chinese population.
Congenital Nystagmus and Its Congeners
  • M. Brodsky
  • Medicine
    Journal of binocular vision and ocular motility
  • 2020
The purpose of this review is to briefly summarize the current understanding of congenital nystagmus in terms of its clinical symptomatology, pathophysiology, differential diagnosis, and ancillary testing, and clinical management.
Heterogeneous phenotype in a family with the FERM domain-containing 7 gene R335X mutation.
  • Yi GuoZhi Song H. Deng
  • Medicine, Biology
    Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
  • 2014
Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.
Optic nerve dysplasia associated with FRMD7 mutations suggests that the abnormal development of afferent visual systems may affect neural circuitry within the oculomotor system.
Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management.
Nystagmus in Children
On the basis of the clinical and electrophysiological characteristics of the nystagmus and any associated neurological signs or symptoms, neurotopical localization can often be inferred and then confirmed by neuroimaging.


The Molecular Genetics of Congenital Idiopathic Nystagmus
If linkage experiments are used to find “nystagmus genes,” their power will depend heavily on accurate phenotyping to avoid misdiagnosis due to masquerading conditions and phenotypic variations within pedigrees.
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
It is found that restricted expression of FRMD7 is found in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.
The mapping of a gene for X-linked dominant CN (NYS1) to the short arm of chromosome X is reported, by showing close linkage of NYS1 to polymorphic markers on chromosome Xp11.4- p11.3 (maximum LOD score of 3.20, over locus DXS993).
Novel mutations in FRMD7 in X‐linked congenital nystagmus
The role of this gene in the pathogenesis of X‐linked congenital nystagmus is confirmed and five novel mutations in FRMD7 are reported, a gene of unclear function.
Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.
It is demonstrated that phenotypic variation of nystagmus occurs in families with FRMD7 mutations, and the role of X inactivation in variable penetrance is unclear in congenital idiopathic nyStagmus.
Linkage analysis of two families with X-linked recessive congenital motor nystagmus
X-linked recessive congenital motor nystagmus was identified in two Chinese families living in the Guangdong province of China and is linked to markers in the region of chromosome Xq23-q27, including DXS1001, DXS8009, and DXS1047.
Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1)
NYS1 appears to be a common gene for familial congenital idiopathic nystagmus and linkage analysis of this family further reduces the interval in which NYS1 is located.
Prevalence and inheritance of congenital nystagmus in a Swedish population
An estimate of the frequency will be presented, followed by an analysis of the pedigree material, to complete the investigation of congenital nystagmus.
Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.
The genetic locus of the X-linked congenital nystagmus gene in this family is identified and the critical interval in this report is less than half the size of the previously described nyStagmus locus.