A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692

Xiao, Xueshan; Li, Shiqiang; Guo, Xiangming; Zhang, Qingjiong

doi:10.1007/s00439-011-1113-7

Cited by 12 publications

(14 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This region overlaps that of a recently identified locus for autosomal dominant CMN in chromosome 1q31.3-q32.2 between D1S2816 and D1S2692, a 12.1 cM (11.39 Mb) region. 4 The overlapping linked intervals shared between the current study and that of Xiao et al 4 resides between D1S2816 and D1S2655, a 5.90 cM (5.92 Mb) region on 1q31.3-q32.1 (Figure 3). Although both Chinese families are of Han nationality and are from Guangdong province, they are unrelated and live in different areas separated by a distance of about 450 km.…”

Section: Discussionsupporting

confidence: 50%

“…Diagnostic criteria for CMN are the same as we described in our previous study. 4 Genomic DNA was prepared from leukocytes of peripheral venous blood.…”

Section: Family Ascertainmentmentioning

confidence: 99%

“…CMN is genetically heterogeneous and can be transmitted as autosomal dominant (NYS2, MIM 164100, 6p12; NYS3, MIM 608345, 7p11; NY4, MIM 193003, 13q31-q33; and a novel CMN locus 1q31-q32.2 4 ), autosomal recessive (MIM 257400) or X-linked (NYS1, MIM 31700, Xq26-q27; NYS5, MIM 300589, Xp11.4-11.3; and NYS6, MIM 300814, Xp22.3) trait. To date, at least seven genetic loci for CMN have been suggested 2-8 but only one gene has been identified, FRMD7, for an X-linked form of CMN.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3–q32.1

Xiao

et al. 2012

J Hum Genet

Self Cite

View full text Add to dashboard Cite

Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations. To identify the disease locus for autosomal dominant CMN in a Chinese family 86001, clinical data, including slit lamp and funduscopic examination and blood samples were collected from family. Genomic DNA was prepared from leukocytes, and a genome-wide linkage scan was performed using 382 polymorphic microsatellite markers and two-point linkage analysis using the logarithm of odds (LOD) score method as implemented in the LINKAGE program package. Maximum two-point scores were calculated using ILINK, and LINKMAP was used for multipoint analysis. All nine affected individuals in the family showed typical phenotypes for CMN. Maximum two-point LOD scores (3.61 at h ¼ 0) were obtained with D1S2619, D1S2877 and D1S2622.The 24.6 cM (28.07 Mb) linked region is flanked by markers D1S218 and D1S2655, placing the disease locus on chromosome 1q25.2-1q32.1. Multipoint analysis confirmed linkage to the region of D1S218 and D1S2655 with Maximum two-point scores of 3.61. The linkage interval overlaps with that of a newly reported CMN locus on 1q31-q32.2 and narrows down the linked region to 5.90 cM (5.92 Mb). This study confirms and refines a novel locus for autosomal dominant CMN to chromosome 1q31.3-q32.1 (5.90 cM) and demonstrates its presence in the Chinese population.

show abstract

Section: Discussionsupporting

confidence: 50%

“…Diagnostic criteria for CMN are the same as we described in our previous study. 4 Genomic DNA was prepared from leukocytes of peripheral venous blood.…”

Section: Family Ascertainmentmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3–q32.1

Xiao

et al. 2012

J Hum Genet

Self Cite

View full text Add to dashboard Cite

show abstract

“…In a recent review of the Mendelian diseases that have been studied by Exome-Seq to date [Gilissen et al, 2011], the authors pointed out that an Exome-Seq study could not always identify a new disease gene. For example, Xiao et al used Exome-Seq to identify pathogenic mutations in a large Chinese family with congenital motor nystagmus (CMN); however, no causative gene was identified in that family [Xiao et al, 2011]. Several reasons such as failure in capturing the genomic region where causative gene resides may explain this failure of identification of CMN gene.…”

Section: Resultsmentioning

confidence: 99%

NGS catalog: A database of next generation sequencing studies in humans

et al. 2012

View full text Add to dashboard Cite

Next generation sequencing (NGS) technologies have been rapidly applied in biomedical and biological research since its advent only a few years ago, and they are expected to advance at an unprecedented pace in the following years. To provide the research community with a comprehensive NGS resource, we have developed the database Next Generation Sequencing Catalog (NGS Catalog, http://bioinfo.mc.vanderbilt.edu/NGS/index.html), a continually updated database that collects, curates and manages available human NGS data obtained from published literature. NGS Catalog deposits publication information of NGS studies and their mutation characteristics (SNVs, small insertions/deletions, copy number variations, and structural variants), as well as mutated genes and gene fusions detected by NGS. Other functions include user data upload, NGS general analysis pipelines, and NGS software. NGS Catalog is particularly useful for investigators who are new to NGS but would like to take advantage of these powerful technologies for their own research. Finally, based on the data deposited in NGS Catalog, we summarized features and findings from whole exome sequencing, whole genome sequencing, and transcriptome sequencing studies for human diseases or traits.

show abstract

“…Several family-based, genomewide linkage studies showed evidence of linkage at seven NYS loci on Xq26.2 (NYS1 (MIM 31 0700 )), 6p12 (NYS2 (MIM)), 7p11.2 (NYS3 (MIM 60 8345 )), 13q31-q33 (NYS4 (MIM 19 3003) ), Xp11.4 (NYS5 (MIM 30 0589 )), Xp22.3 (NYS6 (MIM 30 0814 )) and on 1q31-q32.2. 3 We have analyzed a large consanguineous Indian family diagnosed as having NYS. Sequencing of the FRMD7 gene, which is well established in its involvement in the pathogenesis of X-linked NYS, revealed a novel missense mutation, c.A917G, that predicts a substitution of Arg for Gln at codon 305 (Q305R) within exon 10 in the affected members of this family.…”

Section: Introductionmentioning

confidence: 99%

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus

et al. 2012

View full text Add to dashboard Cite

Congenital nystagmus (NYS) is characterized by bilateral, spontaneous, and involuntary movements of the eyeballs that most commonly presents between 2 and 6 months of life. To date, 44 different FRMD7 gene mutations have been found to be etiological factors for the NYS1 locus at Xq26-q27. The aim of this study was to find the FRMD7 gene mutations in a large eleven-generation Indian pedigree with 71 members who are affected by NYS. Mutation analysis of the entire coding region and splice junctions of the FRMD7 gene revealed a novel missense mutation, c.A917G, predicts a substitution of Arg for Gln at codon 305 (Q305R) within exon 10 of FRMD7. The mutation was detected in hemizygous males, and in homozygous and heterozygous states in affected female members of the family. This mutation was not detected in unaffected members of the family or in 100 unrelated control subjects. This mutation was found to be at a highly conserved residue within the FERMadjacent domain in affected members of the family. Structure prediction and energetic analysis of wild-type FRMD7 compared with mutant (Q305R) revealed that this change in amino acid led to a change in secondary structure predicted to be an energetically unstable protein. The present study represents the first confirmation of FRMD7 gene mutations in a multigenerational Indian family and expands the mutation spectrum for this locus.

show abstract

A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692

Cited by 12 publications

References 22 publications

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3–q32.1

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3–q32.1

NGS catalog: A database of next generation sequencing studies in humans

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus

Contact Info

Product

Resources

About