About: Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations     Goto   Sponge   NotDistinct   Permalink

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  • Objectives: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients until the recent identification of EXOSC3 mutations in several families with relatively mild course of PCH1. We aim to genetically stratify subjects in a large and well-defined cohort to define the clinical spectrum and genotype-phenotype correlation. Methods: We documented clinical, neuroimaging, and morphologic data of 37 subjects from 27 families with PCH1. EXOSC3 gene sequencing was performed in 27 unrelated index patients of mixed ethnicity. Results: Biallelic mutations in EXOSC3 were detected in 10 of 27 families (37%). The most common mutation among all ethnic groups was c.395A>C, p.D132A, responsible for 11 (55%) of the 20 mutated alleles and ancestral in origin. The mutation-positive subjects typically presented with normal pregnancy, normal birth measurements, and relative preservation of brainstem and cortical structures. Psychomotor retardation was profound in all patients but lifespan was variable, with 3 subjects surviving beyond the late teens. Abnormal oculomotor function was commonly observed in patients surviving beyond the first year. Major clinical features previously reported in PCH1, including intrauterine abnormalities, postnatal hypoventilation and feeding difficulties, joint contractures, and neonatal death, were rarely observed inmutation-positive infants but were typical among themutation-negative subjects. Conclusion: EXOSC3 mutations account for 30%-40% of patients with PCH1 with variability in survival and clinical severity that is correlated with the genotype. Neurology (R) 2013;80:438-446
  • Objectives: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients until the recent identification of EXOSC3 mutations in several families with relatively mild course of PCH1. We aim to genetically stratify subjects in a large and well-defined cohort to define the clinical spectrum and genotype-phenotype correlation. Methods: We documented clinical, neuroimaging, and morphologic data of 37 subjects from 27 families with PCH1. EXOSC3 gene sequencing was performed in 27 unrelated index patients of mixed ethnicity. Results: Biallelic mutations in EXOSC3 were detected in 10 of 27 families (37%). The most common mutation among all ethnic groups was c.395A>C, p.D132A, responsible for 11 (55%) of the 20 mutated alleles and ancestral in origin. The mutation-positive subjects typically presented with normal pregnancy, normal birth measurements, and relative preservation of brainstem and cortical structures. Psychomotor retardation was profound in all patients but lifespan was variable, with 3 subjects surviving beyond the late teens. Abnormal oculomotor function was commonly observed in patients surviving beyond the first year. Major clinical features previously reported in PCH1, including intrauterine abnormalities, postnatal hypoventilation and feeding difficulties, joint contractures, and neonatal death, were rarely observed inmutation-positive infants but were typical among themutation-negative subjects. Conclusion: EXOSC3 mutations account for 30%-40% of patients with PCH1 with variability in survival and clinical severity that is correlated with the genotype. Neurology (R) 2013;80:438-446 (en)
Title
  • Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
  • Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations (en)
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  • Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
  • Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations (en)
skos:notation
  • RIV/00216208:11130/13:10196762!RIV14-MSM-11130___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I
http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
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  • 97155
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11130/13:10196762
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • involvement; degeneration; classification; onset; olivopontocerebellar hypoplasia; cerebellar hypoplasia; horn cell disease; spinal muscular-atrophy; werdnig-hoffmann disease (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [14A09CD7BFBA]
http://linked.open...i/riv/nazevZdroje
  • Neurology
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 80
http://linked.open...iv/tvurceVysledku
  • Seeman, Pavel
  • Holzinger, Andreas
  • Van Maldergem, Lionel
  • Barth, Peter
  • Brockmann, Knut
  • Colomer, Jaume
  • Eggermann, Thomas
  • Graul-Neumann, Luitgard
  • Houge, Gunnar
  • Huebner, Christoph
  • Jen, Joanna C.
  • Kirschner, Janbernd
  • Korinthenberg, Rudolf
  • Muntoni, Francesco
  • Nelson, Stanley F.
  • Puchmajerova, Alena
  • Reardon, William
  • Rudnik-Schoeneborn, Sabine
  • Ryan, Monique M.
  • Schiff, Manuel
  • Seeger, Juergen
  • Seidel, Ulrich
  • Senderek, Jan
  • Steinlin, Maja
  • Sztriha, Laszlo
  • Yourshaw, Michael
  • Zerres, Klaus
http://linked.open...ain/vavai/riv/wos
  • 000314159600011
issn
  • 0028-3878
number of pages
http://bibframe.org/vocab/doi
  • 10.1212/WNL.0b013e31827f0f66
http://localhost/t...ganizacniJednotka
  • 11130
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