A new locus in chromosome 2q37-qter is associated with posterior polar cataract

Ouyang, Shan; Gao, Li; Zhang, Lu; Zheng, Yi; Cao, Wenping; Gao, Feng; He, Lin; Liu, Ping

doi:10.1007/s00417-011-1781-y

Cited by 3 publications

(3 citation statements)

References 23 publications

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“…In the other diagnosed family, OFT-00350, a de novo deletion was found in the 661.2 Kb proband in the region 2q37.3. This region had been associated with the occurrence of bilateral posterior polar cataracts in two Chinese families [60]. This phenotype also coincided with the phenotype of our patient, which showed that the deleted region was clearly associated with pediatric cataracts.…”

Section: Discussionsupporting

confidence: 88%

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Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

Rodríguez-Solana,

Arruti,

Nieves-Moreno

et al. 2023

IJMS

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Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the most frequent causes of reversible blindness in childhood, the main objective of this study was to propose new responsible gene candidates that would allow a more targeted genetic approach and expand our genetic knowledge about the disease. We present a whole exome sequencing (WES) study of 20 Spanish families with non-syndromic pediatric cataracts and a previous negative result on an ophthalmology next-generation sequencing panel. After ophthalmological evaluation and collection of peripheral blood samples from these families, WES was performed. We were able to reach a genetic diagnosis in 10% of the families analyzed and found genes that could cause pediatric cataracts in 35% of the cohort. Of the variants found, 18.2% were classified as pathogenic, 9% as likely pathogenic, and 72.8% as variants of uncertain significance. However, we did not find conclusive results in 55% of the families studied, which suggests further studies are needed. The results of this WES study allow us to propose LONP1, ACACA, TRPM1, CLIC5, HSPE1, ODF1, PIKFYVE, and CHMP4A as potential candidates to further investigate for their role in pediatric cataracts, and AQP5 and locus 2q37 as causal genes.

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Section: Discussionsupporting

confidence: 88%

“…Currently, 71 cataract-associated loci have been mapped [20], among which the 2q37qter locus was described in 2012 [60]. This article describes two Chinese families in which all affected members had a clear diagnosis of non-syndromic bilateral posterior polar congenital cataracts that were present after birth and developed during childhood.…”

Section: Discussionmentioning

confidence: 99%

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

Rodríguez-Solana,

Arruti,

Nieves-Moreno

et al. 2023

IJMS

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“…More and more genes related to congenital cataracts have been mapped. So far, more than 40 loci have been mapped in congenital cataracts (Hejtmancik 2008; Zhao et al 2011; Ouyang et al 2012), and more than 26 genes have been characterized. Meanwhile, the number of associated genes is constantly increasing (Shiels and Hejtmancik 2007).…”

mentioning

confidence: 99%

A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

Huang

Zhang

et al. 2014

G3 Genes|Genomes|Genetics

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Congenital cataracts are a significant cause of visual impairment or blindness in children. One-third of cases estimated to have a genetic cause. We carried out gene analysis and bioinformatics analysis to map the locus and to identify the underlying genetic defect in a 12-member, four-generation Chinese family affected with bilateral congenital cataracts. We screened individuals of the family and discovered a distinct missense mutation in HSF4 (a gene at this locus that encodes teat-shock transcription factor 4). Bioinformatics analysis was used to determine possible changes in the protein structure that could affect the phenotype. Sequencing of the candidate genes showed a heterozygous c.69 G→T change in the heat shock transcription factor 4 (HSF4) gene, which resulted in the substitution of a lysine with an asparagine (p. K23N). This mutation cosegregated with all affected individuals and was not observed in unaffected family members. Bioinformatics analysis indicated that the p. K23N mutation was predicted to be disease causing. This is the first report of the novel missense mutation, c.69 G→T (p. K23N), in exon 3 of the HSF4 locus on 16q21-q22 associated with bilateral congenital cataracts in a Chinese family. This novel mutation could enable propergenetic diagnostics and counseling in affected families and could lead to a better understanding of the structure and function of HSF4 in health and disease.

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Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient

Yang,

Jiang,

Nie

et al. 2024

Endocrine

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A new locus in chromosome 2q37-qter is associated with posterior polar cataract

Abstract: Our results suggest that an unidentified gene in chromosome 2q37-qter is associated with posterior polar cataract, which may have an implication in understanding the genetic and molecular mechanisms of cataracts.

Cited by 3 publications

References 23 publications

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient

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