Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

doi:10.1016/j.ymgmr.2017.02.002

. 2017 Mar 1:11:92-93.

doi: 10.1016/j.ymgmr.2017.02.002. eCollection 2017 Jun.

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

Nataniel Floriano Ludwig^{1

2}, Fernanda Sperb-Ludwig^{1

2}, Renata Voltolini Velho³, Ida Vanessa D Schwartz^{1

2

4}

Affiliations

¹ Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
² BRAIN Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
³ Section of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
⁴ Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

PMID: 28649512
PMCID: PMC5470938
DOI: 10.1016/j.ymgmr.2017.02.002

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

Nataniel Floriano Ludwig et al. Mol Genet Metab Rep. 2017.

. 2017 Mar 1:11:92-93.

doi: 10.1016/j.ymgmr.2017.02.002. eCollection 2017 Jun.

Authors

Nataniel Floriano Ludwig^{1

2}, Fernanda Sperb-Ludwig^{1

2}, Renata Voltolini Velho³, Ida Vanessa D Schwartz^{1

2

4}

Affiliations

¹ Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
² BRAIN Laboratory, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
³ Section of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
⁴ Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

PMID: 28649512
PMCID: PMC5470938
DOI: 10.1016/j.ymgmr.2017.02.002

No abstract available

Keywords: De novo alteration; Mucolipidosis III gamma; Next-generation sequencing.

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References

1. Cathey S.S., Kudo M., Tiede S., Raas-Rothschild A., Braulke T., Beck M., Taylor H.A., Canfield W.M., Leroy J.G., Neufeld E.F., McKusick V.A. Molecular order in mucolipidosis II and III nomenclature. Am. J. Med. Genet. A. 2008;143A:2106–2112. - PubMed
1. Braulke T., Raas-Rothschild A., Kornfeld S. 2015. I Cell Disease and Pseudo Hurler Polydystrophy: Disorders of Lysosomal Enzyme Phosphorylation and Localization; pp. 1–31. (Online Metab. Mol. Bases Inherit. Dis.).
1. Velho R.V., Alegra T., Sperb F., Ludwig N.F., Saraiva-Pereira M.L., Matte U., Schwartz I.V.D. A de novo or germline mutation in a family with mucolipidosis III gamma: implications for molecular diagnosis and genetic counseling. Mol. Genet. Metab. Reports. 2014;1:98–102. - PMC - PubMed
1. Liu L., Li Y., Li S., Hu N., He Y., Pong R., Lin D., Lu L., Law M. Comparison of next-generation sequencing systems. J. Biomed. Biotechnol. 2012;2012 - PMC - PubMed
1. Rohlin A., Wernersson J., Engwall Y., Wiklund L., Björk J., Nordling M. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum. Mutat. 2009;30:1012–1020. - PubMed

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[1] Cathey S.S., Kudo M., Tiede S., Raas-Rothschild A., Braulke T., Beck M., Taylor H.A., Canfield W.M., Leroy J.G., Neufeld E.F., McKusick V.A. Molecular order in mucolipidosis II and III nomenclature. Am. J. Med. Genet. A. 2008;143A:2106–2112. - PubMed

[2] Cathey S.S., Kudo M., Tiede S., Raas-Rothschild A., Braulke T., Beck M., Taylor H.A., Canfield W.M., Leroy J.G., Neufeld E.F., McKusick V.A. Molecular order in mucolipidosis II and III nomenclature. Am. J. Med. Genet. A. 2008;143A:2106–2112. - PubMed

[3] Braulke T., Raas-Rothschild A., Kornfeld S. 2015. I Cell Disease and Pseudo Hurler Polydystrophy: Disorders of Lysosomal Enzyme Phosphorylation and Localization; pp. 1–31. (Online Metab. Mol. Bases Inherit. Dis.).

[4] Braulke T., Raas-Rothschild A., Kornfeld S. 2015. I Cell Disease and Pseudo Hurler Polydystrophy: Disorders of Lysosomal Enzyme Phosphorylation and Localization; pp. 1–31. (Online Metab. Mol. Bases Inherit. Dis.).

[5] Velho R.V., Alegra T., Sperb F., Ludwig N.F., Saraiva-Pereira M.L., Matte U., Schwartz I.V.D. A de novo or germline mutation in a family with mucolipidosis III gamma: implications for molecular diagnosis and genetic counseling. Mol. Genet. Metab. Reports. 2014;1:98–102. - PMC - PubMed

[6] Velho R.V., Alegra T., Sperb F., Ludwig N.F., Saraiva-Pereira M.L., Matte U., Schwartz I.V.D. A de novo or germline mutation in a family with mucolipidosis III gamma: implications for molecular diagnosis and genetic counseling. Mol. Genet. Metab. Reports. 2014;1:98–102. - PMC - PubMed

[7] Liu L., Li Y., Li S., Hu N., He Y., Pong R., Lin D., Lu L., Law M. Comparison of next-generation sequencing systems. J. Biomed. Biotechnol. 2012;2012 - PMC - PubMed

[8] Liu L., Li Y., Li S., Hu N., He Y., Pong R., Lin D., Lu L., Law M. Comparison of next-generation sequencing systems. J. Biomed. Biotechnol. 2012;2012 - PMC - PubMed

[9] Rohlin A., Wernersson J., Engwall Y., Wiklund L., Björk J., Nordling M. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum. Mutat. 2009;30:1012–1020. - PubMed

[10] Rohlin A., Wernersson J., Engwall Y., Wiklund L., Björk J., Nordling M. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum. Mutat. 2009;30:1012–1020. - PubMed

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Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

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Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

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