Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-02-14

AUTHORS

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

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. More... »

PAGES

1-32

References to SciGraph publications

  • 2013-09. Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 1998-06. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD in NATURE GENETICS
  • 2002-04. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly in HUMAN GENETICS
  • 2005-12. PAX6 mutations: genotype-phenotype correlations in BMC GENETICS
  • 2004-12. MAB21L2, a vertebrate member of the Male-abnormal 21 family, modulates BMP signaling and interacts with SMAD1 in BMC CELL BIOLOGY
  • 2016-04-06. FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1 in NATURE COMMUNICATIONS
  • 2011-10. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome in HUMAN GENETICS
  • 2018-12. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature in BMC MEDICAL GENETICS
  • 2012-05. Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-08. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 in NATURE GENETICS
  • 2016-04. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12. Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus in SCIENTIFIC REPORTS
  • 2009-11. Novel SOX2 partner-factor domain mutation in a four-generation family in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-10-30. Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia in HUMAN GENETICS
  • 1994-08. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects in NATURE GENETICS
  • 2018-08-02. The hedgehog pathway and ocular developmental anomalies in HUMAN GENETICS
  • 2012-10. Aniridia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2003-04. Mutations in SOX2 cause anophthalmia in NATURE GENETICS
  • 2018-09-22. The genetic architecture of aniridia and Gillespie syndrome in HUMAN GENETICS
  • 2012-02. ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis in NATURE GENETICS
  • 2010-12. Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies in BMC GENETICS
  • 2018-02-20. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies in HUMAN GENETICS
  • 2016-07. Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1 in SCIENTIFIC REPORTS
  • 2014-07. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-06. Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice in NATURE GENETICS
  • 2007-10. A practical guide to the management of anophthalmia and microphthalmia in EYE
  • 2017-06. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies in HUMAN GENETICS
  • 2003-02. Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-02. The sine oculis homeobox (SIX) family of transcription factors as regulators of development and disease in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2007-12. Anophthalmia and microphthalmia in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-12. Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations in SCIENTIFIC REPORTS
  • 2018-10. Implication of non-coding PAX6 mutations in aniridia in HUMAN GENETICS
  • 2016-05. Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-05. Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease in NATURE NEUROSCIENCE
  • 2014-12. Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics in ORPHANET JOURNAL OF RARE DISEASES
  • 2011-05. Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma in GENETICS IN MEDICINE
  • 2012-11. Homozygous null mutation in ODZ3 causes microphthalmia in humans in GENETICS IN MEDICINE
  • 2014-03. A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-07. Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy in HUMAN GENETICS
  • 2011-11. Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations in GENETICS IN MEDICINE
  • 2017-12. New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders in SCIENTIFIC REPORTS
  • 2012-07. Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos in JAPANESE JOURNAL OF OPHTHALMOLOGY
  • 2018-11. Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing in JOURNAL OF HUMAN GENETICS
  • 2015-03. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12. Gene Therapy Restores Mfrp and Corrects Axial Eye Length in SCIENTIFIC REPORTS
  • 2011-12. Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations in BMC MEDICAL GENETICS
  • 2015-02. Mechanisms of retinoic acid signalling and its roles in organ and limb development in NATURE REVIEWS MOLECULAR CELL BIOLOGY
  • 2015-05. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology in GENETICS IN MEDICINE
  • 1996-05. Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos in EYE
  • 2005-04. The epidemiology of anophthalmia and microphthalmia in Sweden in EUROPEAN JOURNAL OF EPIDEMIOLOGY
  • 1997-06. The Rx homeobox gene is essential for vertebrate eye development in NATURE
  • 2011-03. A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly in EUROPEAN JOURNAL OF HUMAN GENETICS
  • Journal

    TITLE

    Human Genetics

    ISSUE

    N/A

    VOLUME

    N/A

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00439-019-01977-y

    DOI

    http://dx.doi.org/10.1007/s00439-019-01977-y

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1112098226

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30762128


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