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Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report

BACKGROUND: The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders. Severe defects in one of these PEX genes result in the absence of functional peroxisomes which is seen in classical Zellweger syndrome. These pat...

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Autores principales: Blomqvist, Maria, Ahlberg, Karin, Lindgren, Julia, Ferdinandusse, Sacha, Asin-Cayuela, Jorge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5547663/
https://www.ncbi.nlm.nih.gov/pubmed/28784167
http://dx.doi.org/10.1186/s13256-017-1365-5
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author Blomqvist, Maria
Ahlberg, Karin
Lindgren, Julia
Ferdinandusse, Sacha
Asin-Cayuela, Jorge
author_facet Blomqvist, Maria
Ahlberg, Karin
Lindgren, Julia
Ferdinandusse, Sacha
Asin-Cayuela, Jorge
author_sort Blomqvist, Maria
collection PubMed
description BACKGROUND: The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders. Severe defects in one of these PEX genes result in the absence of functional peroxisomes which is seen in classical Zellweger syndrome. These patients present with hypotonia and seizures shortly after birth. Other typical symptoms are dysmorphic features, liver disease, retinal degeneration, sensorineural deafness, polycystic kidneys, and the patient does not reach any developmental milestones. CASE PRESENTATION: We report a case of a patient with Zellweger spectrum disorder due to a novel mutation in the PEX10 gene, presenting with a mild late-onset neurological phenotype. The patient, an Assyrian girl originating from Iraq, presented with sensorineural hearing impairment at the age of 5 followed by sensorimotor polyneuropathy, cognitive delay, impaired gross and fine motor skills, and tremor and muscle weakness in her teens. Analyses of biochemical markers for peroxisomal disease suggested a mild peroxisomal defect and functional studies in fibroblasts confirmed the existence of a peroxisome biogenesis disorder. Diagnosis was confirmed by next generation sequencing analysis, which showed a novel homozygous mutation (c.530 T > G (p.Leu177Arg) (NM_153818.1)) in the PEX10 gene predicted to be pathogenic. CONCLUSIONS: This case highlights the importance of performing biochemical, functional, and genetic peroxisomal screening in patients with clinical presentations milder than those usually observed in Zellweger spectrum disorders.
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spelling pubmed-55476632017-08-09 Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report Blomqvist, Maria Ahlberg, Karin Lindgren, Julia Ferdinandusse, Sacha Asin-Cayuela, Jorge J Med Case Rep Case Report BACKGROUND: The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders. Severe defects in one of these PEX genes result in the absence of functional peroxisomes which is seen in classical Zellweger syndrome. These patients present with hypotonia and seizures shortly after birth. Other typical symptoms are dysmorphic features, liver disease, retinal degeneration, sensorineural deafness, polycystic kidneys, and the patient does not reach any developmental milestones. CASE PRESENTATION: We report a case of a patient with Zellweger spectrum disorder due to a novel mutation in the PEX10 gene, presenting with a mild late-onset neurological phenotype. The patient, an Assyrian girl originating from Iraq, presented with sensorineural hearing impairment at the age of 5 followed by sensorimotor polyneuropathy, cognitive delay, impaired gross and fine motor skills, and tremor and muscle weakness in her teens. Analyses of biochemical markers for peroxisomal disease suggested a mild peroxisomal defect and functional studies in fibroblasts confirmed the existence of a peroxisome biogenesis disorder. Diagnosis was confirmed by next generation sequencing analysis, which showed a novel homozygous mutation (c.530 T > G (p.Leu177Arg) (NM_153818.1)) in the PEX10 gene predicted to be pathogenic. CONCLUSIONS: This case highlights the importance of performing biochemical, functional, and genetic peroxisomal screening in patients with clinical presentations milder than those usually observed in Zellweger spectrum disorders. BioMed Central 2017-08-08 /pmc/articles/PMC5547663/ /pubmed/28784167 http://dx.doi.org/10.1186/s13256-017-1365-5 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Blomqvist, Maria
Ahlberg, Karin
Lindgren, Julia
Ferdinandusse, Sacha
Asin-Cayuela, Jorge
Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report
title Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report
title_full Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report
title_fullStr Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report
title_full_unstemmed Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report
title_short Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report
title_sort identification of a novel mutation in pex10 in a patient with attenuated zellweger spectrum disorder: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5547663/
https://www.ncbi.nlm.nih.gov/pubmed/28784167
http://dx.doi.org/10.1186/s13256-017-1365-5
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