Educational paper

Chan, Wai Hong; Biswas, Susmito; Ashworth, Jane; Lloyd, I C

doi:10.1007/s00431-012-1700-1

Cited by 83 publications

(34 citation statements)

References 63 publications

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“…For instance, lack of input from one eye will render the ocular dominance columns of that eye nearly extinct and sight will never properly recover even if visual input is restored. Similar phenomena have also been reported in humans ( Lewis and Maurer, 2005 ; Maurer et al , 2005 ; Birch et al , 2009 ; Chan et al , 2012 ; Dormal et al , 2012 although see also Kalia et al , 2014 ), and the common consensus is that lack of visual input will cause irreparable damage to the organization of the visual cortex. Furthermore, full visual deprivation causes visual areas to reorganize to process other inputs and sensory modalities ( Merabet and Pascual-Leone, 2010 ; Voss and Zatorre, 2012 ).…”

Section: Introductionsupporting

confidence: 79%

Functional connectivity of visual cortex in the blind follows retinotopic organization principles

Striem-Amit

Ovadia-Caro

Caramazza

et al. 2015

Brain

145

146

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Section: Introductionsupporting

confidence: 79%

Functional connectivity of visual cortex in the blind follows retinotopic organization principles

Striem-Amit

Ovadia-Caro

Caramazza

et al. 2015

Brain

145

146

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“…However, no major gene locus for VACTERL association or TEF/EA has been found [7]. Congenital cataracts have a diverse etiology, and, in many children, an underlying cause is not identified [8]. There are multiple genetic loci to which cataracts have been mapped, with the only gene on chromosome 15 being the CCSSO gene, which is contained between 15q21 and 15q22 [9].…”

Section: Introductionmentioning

confidence: 99%

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

Wong

Johnson

Young

et al. 2013

Case Reports in Genetics

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The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C) and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

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“…Approximately 200,000 children worldwide are blind from this condition (Chan et al 2012). In industrialized countries, the incidence is 1–6 per 10,000 live births (Santana and Waiswo 2011).…”

mentioning

confidence: 99%

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

Javadiyan

Craig

Souzeau

et al. 2017

G3 Genes|Genomes|Genetics

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Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of pediatric cataract in Australian families by screening known disease-associated genes using massively parallel sequencing technology. We sequenced 51 previously reported pediatric cataract genes in 33 affected individuals with a family history (cases with previously known or published mutations were excluded) using the Ion Torrent Personal Genome Machine. Variants were prioritized for validation if they were predicted to alter the protein sequence and were absent or rare with minor allele frequency <1% in public databases. Confirmed mutations were assessed for segregation with the phenotype in all available family members. All identified novel or previously reported cataract-causing mutations were screened in 326 unrelated Australian controls. We detected 11 novel mutations in GJA3, GJA8, CRYAA, CRYBB2, CRYGS, CRYGA, GCNT2, CRYGA, and MIP; and three previously reported cataract-causing mutations in GJA8, CRYAA, and CRYBB2. The most commonly mutated genes were those coding for gap junctions and crystallin proteins. Including previous reports of pediatric cataract-associated mutations in our Australian cohort, known genes account for >60% of familial pediatric cataract in Australia, indicating that still more causative genes remain to be identified.

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Educational paper

Cited by 83 publications

References 63 publications

Functional connectivity of visual cortex in the blind follows retinotopic organization principles

Functional connectivity of visual cortex in the blind follows retinotopic organization principles

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

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