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Article ; Online: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

Kesim, Yesim / Ceroni, Fabiola / Damián, Alejandra / Blanco-Kelly, Fiona / Ayuso, Carmen / Williamson, Kathy / Paquis-Flucklinger, Véronique / Bax, Dorine A / Plaisancié, Julie / Rieubland, Claudine / Chamlal, Mostafa / Cortón, Marta / Chassaing, Nicolas / Calvas, Patrick / Ragge, Nicola K

European journal of human genetics : EJHG

2023 Volume 31, Issue 10, Page(s) 1175–1180

Abstract: Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of recessively inherited cases of severe developmental eye anomalies. Some individuals can display variable neurodevelopmental features, but the relationship to the ALDH1A3 ... ...

Abstract	Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of recessively inherited cases of severe developmental eye anomalies. Some individuals can display variable neurodevelopmental features, but the relationship to the ALDH1A3 variants remains unclear. Here, we describe seven unrelated families with biallelic pathogenic ALDH1A3 variants: four compound heterozygous and three homozygous. All affected individuals had bilateral anophthalmia/microphthalmia (A/M), three with additional intellectual or developmental delay, one with autism and seizures and three with facial dysmorphic features. This study confirms that individuals with biallelic pathogenic ALDH1A3 variants consistently manifest A/M, but additionally display neurodevelopmental features with significant intra- and interfamilial variability. Furthermore, we describe the first case with cataract and highlight the importance of screening ALDH1A3 variants in nonconsanguineous families with A/M.
MeSH term(s)	Humans ; Microphthalmos/genetics ; Anophthalmos/genetics ; Mutation ; Aldehyde Oxidoreductases/genetics ; Eye Abnormalities ; Phenotype
Chemical Substances	Aldehyde Oxidoreductases (EC 1.2.-)
Language	English
Publishing date	2023-03-31
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-023-01342-8
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Article ; Online: Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

European journal of human genetics : EJHG

2023 Volume 31, Issue 10, Page(s) 1196–1198

Language	English
Publishing date	2023-04-28
Publishing country	England
Document type	Published Erratum
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-023-01363-3
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Article ; Online: Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.

Plaisancié, J / Ceroni, F / Holt, R / Zazo Seco, C / Calvas, P / Chassaing, N / Ragge, Nicola K

Human genetics

2019 Volume 138, Issue 8-9, Page(s) 799–830

Abstract: Eye formation is the result of coordinated induction and differentiation processes during embryogenesis. Disruption of any one of these events has the potential to cause ocular growth and structural defects, such as anophthalmia and microphthalmia (A/M). ...

Abstract	Eye formation is the result of coordinated induction and differentiation processes during embryogenesis. Disruption of any one of these events has the potential to cause ocular growth and structural defects, such as anophthalmia and microphthalmia (A/M). A/M can be isolated or occur with systemic anomalies, when they may form part of a recognizable syndrome. Their etiology includes genetic and environmental factors; several hundred genes involved in ocular development have been identified in humans or animal models. In humans, around 30 genes have been repeatedly implicated in A/M families, although many other genes have been described in single cases or families, and some genetic syndromes include eye anomalies occasionally as part of a wider phenotype. As a result of this broad genetic heterogeneity, with one or two notable exceptions, each gene explains only a small percentage of cases. Given the overlapping phenotypes, these genes can be most efficiently tested on panels or by whole exome/genome sequencing for the purposes of molecular diagnosis. However, despite whole exome/genome testing more than half of patients currently remain without a molecular diagnosis. The proportion of undiagnosed cases is even higher in those individuals with unilateral or milder phenotypes. Furthermore, even when a strong gene candidate is available for a patient, issues of incomplete penetrance and germinal mosaicism make diagnosis and genetic counseling challenging. In this review, we present the main genes implicated in non-syndromic human A/M phenotypes and, for practical purposes, classify them according to the most frequent or predominant phenotype each is associated with. Our intention is that this will allow clinicians to rank and prioritize their molecular analyses and interpretations according to the phenotypes of their patients.
MeSH term(s)	Animals ; Anophthalmos/genetics ; Exome/genetics ; Eye/pathology ; Eye Abnormalities/genetics ; Humans ; Microphthalmos/genetics ; Phenotype ; Syndrome
Language	English
Publishing date	2019-02-14
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-019-01977-y
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Article ; Online: SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?

Ragge, N K / Quaghebeur, G / Stewart, H

Clinical genetics

2013 Volume 83, Issue 5, Page(s) 482–484

MeSH term(s)	Adult ; Anophthalmos/diagnosis ; Anophthalmos/genetics ; Brain/pathology ; Facies ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation ; Phenotype ; SOXB1 Transcription Factors/genetics ; Syndrome
Chemical Substances	SOX2 protein, human ; SOXB1 Transcription Factors
Language	English
Publishing date	2013-05
Publishing country	Denmark
Document type	Case Reports ; Letter
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/j.1399-0004.2012.01922.x
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Article ; Online: Individuals with heterozygous variants in the Wnt-signalling pathway gene

Holt, Richard / Goudie, David / Verde, Alejandra Damián / Gardham, Alice / Ramond, Francis / Putoux, Audrey / Sarkar, Ajoy / Clowes, Virginia / Clayton-Smith, Jill / Banka, Siddharth / Cortazar Galarza, Laura / Thuret, Gilles / Ubeda Erviti, Marta / Zurutuza Ibarguren, Ane / Sáez Villaverde, Raquel / Tamayo Durán, Alejandra / Ayuso, Carmen / Bax, Dorine A / Plaisancie, Julie /

Corton, Marta / Chassaing, Nicolas / Calvas, Patrick / Ragge, Nicola K

Ophthalmic genetics

2023 Volume 43, Issue 6, Page(s) 809–816

Abstract: Background: Anophthalmia, microphthalmia and coloboma are a genetically heterogenous spectrum of developmental eye disorders. Recently, variants in the Wnt-pathway gene : Materials and methods: We identified variants in : Results: We report eight ... ...

Abstract	Background: Anophthalmia, microphthalmia and coloboma are a genetically heterogenous spectrum of developmental eye disorders. Recently, variants in the Wnt-pathway gene Materials and methods: We identified variants in Results: We report eight new families with Conclusions: Our findings indicate
MeSH term(s)	Humans ; Microphthalmos/genetics ; Coloboma/diagnosis ; Coloboma/genetics ; Eye ; Anophthalmos/genetics ; Phenotype ; Frizzled Receptors/genetics ; Solute Carrier Family 12, Member 2/genetics
Chemical Substances	FZD5 protein, human ; Frizzled Receptors ; SLC12A2 protein, human ; Solute Carrier Family 12, Member 2
Language	English
Publishing date	2023-01-25
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1199279-7
ISSN	1744-5094 ; 0167-6784 ; 1381-6810
ISSN (online)	1744-5094
ISSN	0167-6784 ; 1381-6810
DOI	10.1080/13816810.2022.2144905
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Article ; Online: New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.

Holt, R / Ceroni, F / Bax, D A / Broadgate, S / Diaz, D Gold / Santos, C / Gerrelli, D / Ragge, N K

Scientific reports

2017 Volume 7, Issue 1, Page(s) 7975

Abstract: YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we ... ...

Abstract	YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort of 258 undiagnosed UK patients with developmental eye disorders, including anophthalmia, microphthalmia and coloboma. We identified a novel 1 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma. This variant is located in the coding region of all nine YAP1 spliceforms, and results in a frameshift and subsequent premature termination codon in each. The variant is predicted to result in the loss of part of the transactivation domain of YAP1, and sequencing of cDNA from the patient shows it does not result in nonsense mediated decay. To investigate the role of YAP1 in human eye development, we performed in situ hybridisation utilising human embryonic tissue, and observed expression in the developing eye, neural tube, brain and kidney. These findings help confirm the role of YAP1 and the Hippo developmental pathway in human eye development and its associated anomalies and demonstrate its expression during development in affected organ systems.
MeSH term(s)	Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/metabolism ; Child ; Coloboma/genetics ; Coloboma/pathology ; Genotype ; Humans ; Male ; Microphthalmos/genetics ; Microphthalmos/pathology ; Mutation ; Phenotype ; Phosphoproteins/genetics ; Phosphoproteins/metabolism ; Transcription Factors ; YAP-Signaling Proteins
Chemical Substances	Adaptor Proteins, Signal Transducing ; Phosphoproteins ; Transcription Factors ; YAP-Signaling Proteins ; YAP1 protein, human
Language	English
Publishing date	2017-08-11
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-017-08397-w
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Article: Clinical and genetic patterns of neurofibromatosis 1 and 2.

Ragge, N K

The British journal of ophthalmology

1993 Volume 77, Issue 10, Page(s) 662–672

MeSH term(s)	Chromosome Mapping ; Genes, Neurofibromatosis 1 ; Genes, Neurofibromatosis 2 ; Humans ; Magnetic Resonance Imaging ; Neurofibromatosis 1/genetics ; Neurofibromatosis 1/pathology ; Neurofibromatosis 2/genetics ; Neurofibromatosis 2/pathology ; Vision Disorders/pathology
Language	English
Publishing date	1993-10
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	80078-8
ISSN	1468-2079 ; 0007-1161
ISSN (online)	1468-2079
ISSN	0007-1161
DOI	10.1136/bjo.77.10.662
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Article ; Online: Imaging studies in congenital anophthalmia reveal preservation of brain architecture in 'visual' cortex.

Bridge, Holly / Cowey, Alan / Ragge, Nicola / Watkins, Kate

Brain : a journal of neurology

2009 Volume 132, Issue Pt 12, Page(s) 3467–3480

Abstract: The functional specialization of the human brain means that many regions are dedicated to processing a single sensory modality. When a modality is absent, as in congenital total blindness, 'visual' regions can be reliably activated by non-visual stimuli. ...

Abstract	The functional specialization of the human brain means that many regions are dedicated to processing a single sensory modality. When a modality is absent, as in congenital total blindness, 'visual' regions can be reliably activated by non-visual stimuli. The connections underlying this functional adaptation, however, remain elusive. In this study, using structural and diffusion-weighted magnetic resonance imaging, we investigated the structural differences in the brains of six bilaterally anophthalmic subjects compared with sighted subjects. Surprisingly, the gross structural differences in the brains were small, even in the occipital lobe where only a small region of the primary visual cortex showed a bilateral reduction in grey matter volume in the anophthalmic subjects compared with controls. Regions of increased cortical thickness were apparent on the banks of the Calcarine sulcus, but not in the fundus. Subcortically, the white matter volume around the optic tract and internal capsule in anophthalmic subjects showed a large decrease, yet the optic radiation volume did not differ significantly. However, the white matter integrity, as measured with fractional anisotropy showed an extensive reduction throughout the brain in the anophthalmic subjects, with the greatest difference in the optic radiations. In apparent contradiction to the latter finding, the connectivity between the lateral geniculate nucleus and primary visual cortex measured with diffusion tractography did not differ between the two populations. However, these findings can be reconciled by a demonstration that at least some of the reduction in fractional anisotropy in the optic radiation is due to an increase in the strength of fibres crossing the radiations. In summary, the major changes in the 'visual' brain in anophthalmic subjects may be subcortical, although the evidence of decreased fractional anisotropy and increased crossing fibres could indicate considerable re-organization.
MeSH term(s)	Adolescent ; Adult ; Anisotropy ; Anophthalmos/pathology ; Anophthalmos/physiopathology ; Atrophy/etiology ; Atrophy/pathology ; Atrophy/physiopathology ; Brain Mapping ; Diffusion Tensor Imaging ; Female ; Functional Laterality/physiology ; Geniculate Bodies/abnormalities ; Geniculate Bodies/physiopathology ; Humans ; Image Processing, Computer-Assisted ; Internal Capsule/abnormalities ; Internal Capsule/physiopathology ; Male ; Nerve Fibers, Myelinated/ultrastructure ; Nervous System Malformations/pathology ; Nervous System Malformations/physiopathology ; Neuronal Plasticity/physiology ; Visual Cortex/abnormalities ; Visual Cortex/physiopathology ; Visual Pathways/abnormalities ; Visual Pathways/physiopathology ; Young Adult
Language	English
Publishing date	2009-11-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80072-7
ISSN	1460-2156 ; 0006-8950
ISSN (online)	1460-2156
ISSN	0006-8950
DOI	10.1093/brain/awp279
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Article ; Online: FOXE3 mutations: genotype-phenotype correlations.

Plaisancié, J / Ragge, N K / Dollfus, H / Kaplan, J / Lehalle, D / Francannet, C / Morin, G / Colineaux, H / Calvas, P / Chassaing, N

Clinical genetics

2017 Volume 93, Issue 4, Page(s) 837–845

Abstract: Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. ... ...

Abstract	Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. Among these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently, associated with recessively inherited primary aphakia, sclerocornea and microphthalmia. In this work, we describe 8 individuals presenting with an MA phenotype. Among them, 7 are carrying biallelic recessive FOXE3 mutations and 2 of these have novel mutations: p.(Ala78Thr) and p.(Arg104Cys). The last of our patients is carrying in the heterozygous state the recessive p.(Arg90Leu) mutation in the FOXE3 gene. To further understand FOXE3 involvement in this wide spectrum of ocular anomalies with 2 different patterns of inheritance, we reviewed all individuals with ocular abnormalities described in the literature for which a FOXE3 mutation was identified. This review demonstrates that correlations exist between the mutation type, mode of inheritance and the phenotype severity. Furthermore, understanding the genetic basis of these conditions will contribute to overall understanding of eye development, improve the quality of care, genetic counseling and, in future, gene-based therapies.
MeSH term(s)	Alleles ; Aphakia/genetics ; Aphakia/physiopathology ; Developmental Disabilities/genetics ; Developmental Disabilities/physiopathology ; Eye Abnormalities/genetics ; Eye Abnormalities/physiopathology ; Female ; Forkhead Transcription Factors/genetics ; Genetic Predisposition to Disease ; Humans ; Male ; Microphthalmos/genetics ; Microphthalmos/physiopathology ; Mutation
Chemical Substances	FOXE3 protein, human ; Forkhead Transcription Factors
Language	English
Publishing date	2017-11-14
Publishing country	Denmark
Document type	Journal Article ; Review
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.13177
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Article ; Online: New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders

R. Holt / F. Ceroni / D. A. Bax / S. Broadgate / D. Gold Diaz / C. Santos / D. Gerrelli / N. K. Ragge

Scientific Reports, Vol 7, Iss 1, Pp 1-

2017 Volume 7

Abstract: Abstract YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. ... ...

Abstract	Abstract YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort of 258 undiagnosed UK patients with developmental eye disorders, including anophthalmia, microphthalmia and coloboma. We identified a novel 1 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma. This variant is located in the coding region of all nine YAP1 spliceforms, and results in a frameshift and subsequent premature termination codon in each. The variant is predicted to result in the loss of part of the transactivation domain of YAP1, and sequencing of cDNA from the patient shows it does not result in nonsense mediated decay. To investigate the role of YAP1 in human eye development, we performed in situ hybridisation utilising human embryonic tissue, and observed expression in the developing eye, neural tube, brain and kidney. These findings help confirm the role of YAP1 and the Hippo developmental pathway in human eye development and its associated anomalies and demonstrate its expression during development in affected organ systems.
Keywords	Medicine ; R ; Science ; Q
Subject code	616
Language	English
Publishing date	2017-08-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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