DMP05 Genetic analysis of a large family with idiopathic congenital motor nystagmus reveals a novel missense mutation

Kaplan, Y.; Vargel,; Kansu, Tülay; Akin, Burcu; Rohmann, Edyta; Kamaci, Soner; Uz, Elif; Özçelık, Tayfun; Wollnik, Bernd; Akarsu, Nurten

doi:10.1016/s1090-3798(08)70544-0

Cited by 2 publications

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“…XLIIN shows an incomplete penetrance in carrier females (27)(28)(29), probably as a consequence of the skewed X inactivation pattern, resulting in an unbalanced inactivation of the paternal and maternal X chromosomes established in embryonic life (28)(29)(30).…”

Section: Case Presentationmentioning

confidence: 99%

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Hafdaoui,

Ciaccio,

Castellotti

et al. 2023

Front. Neurol.

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Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the horizontal axis. X-linked IIN (XLIIN) is the most common form of congenital nystagmus, and the FERM domain-containing gene (FRMD7) is the most common cause of pathogenesis, followed by mutations in GPR143. To date, more than 60 pathogenic FRMD7 variants have been identified, and the physiopathological pathways leading to the disease are not yet completely understood. FRMD7-associated nystagmus usually affects male patients, while it shows incomplete penetrance in female patients, who are mostly asymptomatic but sometimes present with mild ocular oscillations or, occasionally, with clear nystagmus. Here we report the first case of a patient with Turner syndrome and INN in an XLIIN pedigree, in which we identified a novel frameshift mutation (c.1492dupT) in the FRMD7 gene: the absence of one X chromosome in the patient unmasked the presence of the familial genetic nystagmus.

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Section: Case Presentationmentioning

confidence: 99%

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Hafdaoui,

Ciaccio,

Castellotti

et al. 2023

Front. Neurol.

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“…Recently, idiopathic congenital nystagmus (CIN) in humans has been linked to a mutation in the FERM-domain containing protein FRMD7 (Tarpey et al , 2006 ;Schorderet et al , 2007 ;Shiels et al , 2007 ;Zhang et al , 2007a,b ;He et al , 2008a,b ;Kaplan et al , 2008 ;Li et al , 2008 ). The functional role of FRMD7 is under current investigation and might reveal important insights into the development and mechanisms of the oculomotor control system.…”

Section: Genetic Zebrafi Sh Models For Oculomotor Disordersmentioning

confidence: 99%

Application of zebrafish oculomotor behavior to model human disorders

Maurer

Huang²

2011

Revneuro

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To ensure high acuity vision, eye movements have to be controlled with astonishing precision by the oculomotor system. Many human diseases can lead to abnormal eye movements, typically of the involuntary oscillatory eye movements type called nystagmus. Such nystagmus can be congenital (infantile) or acquired later in life. Although the resulting eye movements are well characterized, there is only little information about the underlying etiology. This is in part owing to the lack of appropriate animal models. In this review article, we des cribe how the zebrafi sh with its quick maturing visual system can be used to model oculomotor pathologies. We compare the characteristics and assessment of human and zebrafi sh eye movements. We describe the oculomotor properties of the zebrafi sh mutant belladonna , which has non-crossing optical fi bers, and is a particularly informative model for human ocu lomotor deficits. This mutant displays a reverse optokinetic response, spontaneous oscillations that closely mimic human congenital nystagmus and abnormal motor behavior linked to circular vection.

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DMP05 Genetic analysis of a large family with idiopathic congenital motor nystagmus reveals a novel missense mutation

Cited by 2 publications

References 0 publications

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Application of zebrafish oculomotor behavior to model human disorders

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