Novel mutation c.980_983delATTA compound with c.986C&gt;A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Song, Feifeng; Chen, Bin-bin; Sun, Zhaohui; Wu, Liping; Zhao, Shenzhi; Miao, Qi; Tang, Xudong

doi:10.1631/jzus.b1200259

Cited by 9 publications

(4 citation statements)

References 26 publications

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“…In family 2, the unaffected mother of the proband carried c.782G>A, and the results demonstrated the co-segregation of the c.782G>A mutation with CN in family 2. The known missense mutation c.781C>G in exon 9 was found in family 3 (III1), which results in the substitution of an amino acid at a highly conserved position, p.R261G, and has been reported three times in the Chinese population, indicating the high possibility that it is a Chinese-specific variant (Zhang B. et al, 2007 ; Song et al, 2013 ; Zhao et al, 2016 ). The novel missense mutation c.284G>A, leading to a replacement of arginine by lysine at position 95, was detected in a female proband in family 4.…”

Section: Resultsmentioning

confidence: 99%

Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus

Wang

Chen

et al. 2021

Front. Cell Dev. Biol.

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Purpose: Congenital nystagmus (CN) is a genetically and clinically heterogeneous ocular disorder that manifests as involuntary, periodic oscillations of the eyes. To date, only FRMD7 and GPR143 have been reported to be responsible for causing CN. Here, we aimed to identify the disease-causing mutations and describe the clinical features in the affected members in our study.Methods: All the subjects underwent a detailed ophthalmic examination. Direct sequencing of all coding exons and splice site regions in FRMD7 and GPR143 and a mutation assessment were performed in each patient.Results: We found 14 mutations in 14/37 (37.8%) probands, including nine mutations in the FRMD7 gene and five mutations in the GPR143 gene, seven of which are novel, including c.284G>A(R95K), c.964C>T(P322S), c.284+10T>G, c.901T>C (Y301H), and c.2014_2023delTCACCCATGG(S672Pfs*12) in FRMD7, and c.250+1G>C, and c.485G>A (W162*) in GPR143. The mutation detection rate was 87.5% (7/8) of familial vs. 24.1% (7/29) of sporadic cases. Ten mutations in 24 (41.7%) non-syndromic subjects and 4 mutations in 13(30.8%) syndromic subjects were detected. A total of 77.8% (7/9) of mutations in FRMD7 were concentrated within the FERM and FA domains, while all mutations in GPR143 were located in exons 1, 2, 4 and 6. We observed that visual acuity tended to be worse in the GPR143 group than in the FRMD7 group, and no obvious difference in other clinical manifestations was found through comparisons in different groups of patients.Conclusions: This study identified 14 mutations (seven novel and seven known) in eight familial and 29 sporadic patients with congenital nystagmus, expanding the mutational spectrum and validating FRMD7 and GPR143 as mutation hotspots. These findings also revealed a significant difference in the screening rate between different groups of participants, providing new insights for the strategy of genetic screening and early clinical diagnosis of CN.

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Section: Resultsmentioning

confidence: 99%

Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus

Wang

Chen

et al. 2021

Front. Cell Dev. Biol.

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“…[ 22 ] However, up to 57% of patients present with a missense mutation,[ 1 ] and it is thought that in these cases the disturbance in protein function would be responsible for the phenotypic expression. [ 8 ]…”

Section: Discussionmentioning

confidence: 99%

“…Until 2013, at least 48 mutations had been described. [ 8 12 ] The majority of which were concentrated in the FA and FERM domains. This shows that both the domains are likely to play an important role in the function of the FRMD7 protein.…”

Section: Discussionmentioning

confidence: 99%

A new gene mutation in a family with idiopathic infantile nystagmus

Galvez-Ruiz

Galindo‐Ferreiro

Lehner

2021

Saudi Journal of Ophthalmology

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Idiopathic infantile nystagmus (IIN) is an inherited disease, which can occur through a number of different inheritance patterns (autosomal dominant, recessive, or X-linked). The most common of these is X-linked inheritance with incomplete penetrance and variable expressivity, and can also be dominant or recessive. To date, only two mutations have been described: the first, affecting the FPR143 gene, which is associated with ocular albinism type I, and located on chromosome Xp22, and the second, affecting the FRMD7 gene located on chromosome X26-q27. To date, a causative gene on locus Xp11.3p11.4 has not yet been identified. The most common cause of IIN is due to mutations in the FRMD7 gene, located on chromosome Xq26. We present a case of a new mutation found in three siblings from a family with FRMD7-related infantile nystagmus, whose parents are consanguineously related in the first degree. A complex mutation has occurred in this family, which, to date, has not been previously reported in the scientific literature. The complex mutation consists of the presence of three consecutive 1 bp deletions in exon 12 (c.1248delT; 1299del C; and 1312delT), causing a secondary deletion (c. 1340–2145 + 214del), and resulting in a truncated protein. We also present a 7-year-old patient from a different family, with periodic alternating nystagmus, having no mutation in the FRMD7 gene, which we assume may be an example of non-FRMD7-related IIN. This patient does not have a family history of nystagmus.

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“…A higher score indicates a higher frequency of MW. This study adopted the Chinese version of the MWQ which shows good validity and reliability (Song & Tang, 2012 ). The internal consistency was 0.908 for this study.…”

Section: Methodsmentioning

confidence: 99%