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Article: Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria

TitleNovel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria
Authors
KeywordsHomozygous variegate porphyria
PPOX
Exonic splicing variant
Minigene
Issue Date2021
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2021, v. 512, p. 117-120 How to Cite?
AbstractIntroduction: Variegate porphyria (VP; OMIM 176200) is one of the acute hepatic porphyrias, and it is characterized by the partial deficiency of protoporphyrinogen oxidase (PPOX). The unusual homozygous variant with mutations on both alleles of PPOX is distinguished with general heterozygous VP by several typical points such as severe defect in PPOX enzyme activity, early onset of photosensitivity before puberty, and skeletal deformity. Material and method: In this study, we describe a very rare case of autosomal recessive form of true homozygous VP found in a Chinese patient with consanguineous parents. Sanger sequencing of the PPOX gene showed a novel homozygous variant located at the first base of exon 8 of the gene, i.e., NM_000309.3c.808G > T. To investigate aberrant splicing induced by the mutant, wild-type exon 8 and mutant exon 8 were expressed in pET01 vector as minigene in cultured-cells and analyzed by RT-PCR. Results: The wildtype PPOX showed an expected band in the gel electrophoresis after RT-PCR. The PPOX c.808G > T only showed a band similar to the band size of the vector only control. This result suggested c.808G > T mutant is an exonic mutation inducing aberrant splicing of pre-mRNA of the PPOX gene. Conclusion: This study showed a very rare case of homozygous VP with autosomal recessive homoallelic pattern. In comparison with previous cases of homozygous VP presenting brachydactyly, it is notable that our patient did not have any skeletal deformities.
Persistent Identifierhttp://hdl.handle.net/10722/293454
ISSN
2020 Impact Factor: 3.786
2015 SCImago Journal Rankings: 1.040
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorCho, SY-
dc.contributor.authorLau, EYT-
dc.contributor.authorLuk, DCK-
dc.contributor.authorLaw, CY-
dc.contributor.authorLai, CK-
dc.contributor.authorLam, CW-
dc.date.accessioned2020-11-23T08:17:00Z-
dc.date.available2020-11-23T08:17:00Z-
dc.date.issued2021-
dc.identifier.citationClinica Chimica Acta, 2021, v. 512, p. 117-120-
dc.identifier.issn0009-8981-
dc.identifier.urihttp://hdl.handle.net/10722/293454-
dc.description.abstractIntroduction: Variegate porphyria (VP; OMIM 176200) is one of the acute hepatic porphyrias, and it is characterized by the partial deficiency of protoporphyrinogen oxidase (PPOX). The unusual homozygous variant with mutations on both alleles of PPOX is distinguished with general heterozygous VP by several typical points such as severe defect in PPOX enzyme activity, early onset of photosensitivity before puberty, and skeletal deformity. Material and method: In this study, we describe a very rare case of autosomal recessive form of true homozygous VP found in a Chinese patient with consanguineous parents. Sanger sequencing of the PPOX gene showed a novel homozygous variant located at the first base of exon 8 of the gene, i.e., NM_000309.3c.808G > T. To investigate aberrant splicing induced by the mutant, wild-type exon 8 and mutant exon 8 were expressed in pET01 vector as minigene in cultured-cells and analyzed by RT-PCR. Results: The wildtype PPOX showed an expected band in the gel electrophoresis after RT-PCR. The PPOX c.808G > T only showed a band similar to the band size of the vector only control. This result suggested c.808G > T mutant is an exonic mutation inducing aberrant splicing of pre-mRNA of the PPOX gene. Conclusion: This study showed a very rare case of homozygous VP with autosomal recessive homoallelic pattern. In comparison with previous cases of homozygous VP presenting brachydactyly, it is notable that our patient did not have any skeletal deformities.-
dc.languageeng-
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca-
dc.relation.ispartofClinica Chimica Acta-
dc.subjectHomozygous variegate porphyria-
dc.subjectPPOX-
dc.subjectExonic splicing variant-
dc.subjectMinigene-
dc.titleNovel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria-
dc.typeArticle-
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hk-
dc.identifier.authorityLam, CW=rp00260-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.cca.2020.10.033-
dc.identifier.pmid33159949-
dc.identifier.scopuseid_2-s2.0-85096053802-
dc.identifier.hkuros318956-
dc.identifier.volume512-
dc.identifier.spage117-
dc.identifier.epage120-
dc.identifier.isiWOS:000600833300020-
dc.publisher.placeNetherlands-

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