Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-05

AUTHORS

Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A. Berry, Guntram Borck, Katherine L. Helbig, Sha Tang, Dagmar Huhle, Georg Christoph Korenke, Malavika Hebbar, Anju Shukla, Katta M. Girisha, Maja Steinlin, Sandra Waldmeier-Wilhelm, Martino Montomoli, Renzo Guerrini, Johannes R. Lemke, Kerstin Kutsche

ABSTRACT

Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique combination of postnatal microcephaly, hypoplastic cerebellum and pons, and hypoplastic or absent corpus callosum. PCH9 is caused by biallelic variants in AMPD2 encoding adenosine monophosphate deaminase 2; however, a homozygous AMPD2 frameshift variant has recently been reported in two family members with spastic paraplegia type 63 (SPG63). We identified homozygous or compound heterozygous AMPD2 variants in eight PCH-affected individuals from six families. The eight variants likely affect function and comprise one frameshift, one nonsense and six missense variants; seven of which were novel. The main clinical manifestations in the eight new patients and 17 previously reported individuals with biallelic AMPD2 variants were postnatal microcephaly, severe global developmental delay, spasticity, and central visual impairment. Brain imaging data identified hypomyelination, hypoplasia of the cerebellum and pons, atrophy of the cerebral cortex, complete or partial agenesis of the corpus callosum and the "figure 8" shape of the hypoplastic midbrain as consistent features. We broaden the AMPD2-related clinical spectrum by describing one individual without microcephaly and absence of the characteristic "figure 8" shape of the midbrain. The existence of various AMPD2 isoforms with different functions possibly explains the variability in phenotypes associated with AMPD2 variants: variants leaving some of the isoforms intact may cause SPG63, while those affecting all isoforms may result in the severe and early-onset PCH9. More... »

PAGES

695-708

References to SciGraph publications

  • 2014-12. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-11. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development in NATURE GENETICS
  • 2014-11. Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia in JOURNAL OF NEUROLOGY
  • 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
  • 2015-07. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions in GENETICS IN MEDICINE
  • 2014-12. A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice in LIPIDS IN HEALTH AND DISEASE
  • 2008-09. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia in NATURE GENETICS
  • 2015-11. SeqMule: automated pipeline for analysis of human exome/genome sequencing data in SCIENTIFIC REPORTS
  • 2016-05. Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases in NATURE BIOTECHNOLOGY
  • 2017-02. Clinical exome sequencing: results from 2819 samples reflecting 1000 families in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-03. Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing in NATURE GENETICS
  • 2016-08. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-04. The regulation and functions of the nuclear RNA exosome complex in NATURE REVIEWS MOLECULAR CELL BIOLOGY
  • 2012-06. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41431-018-0098-2

    DOI

    http://dx.doi.org/10.1038/s41431-018-0098-2

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1101124210

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29463858


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