Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

A. Mesut Erzurumluoglu; Muslim M. Alsaadi; Santiago Rodriguez; Tahani S. Alotaibi; Philip A. I. Guthrie; Sian Lewis; Aasiya Ginwalla; Tom R. Gaunt; Khalid K. Alharbi; Fahad M. Alsaif; Basma M. Alsaadi; Ian N. M. Day

doi:10.1371/journal.pone.0121351

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Open Access

Peer-reviewed

Research Article

Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

A. Mesut Erzurumluoglu ,

* E-mail: epmmee@bristol.ac.uk

Affiliation Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom
⨯
Muslim M. Alsaadi,

Affiliation College of Medicine, Pediatric Department, King Saud University, P.O. Box 50807, Riyadh, 11533, Kingdom of Saudi Arabia
⨯
Santiago Rodriguez,

Affiliation Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom
⨯
Tahani S. Alotaibi,

Affiliation College of Medicine, Pediatric Department, King Saud University, P.O. Box 50807, Riyadh, 11533, Kingdom of Saudi Arabia
⨯
Philip A. I. Guthrie,

Affiliation Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom
⨯
Sian Lewis,

Affiliation Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom
⨯
Aasiya Ginwalla,

Affiliation Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom
⨯
Tom R. Gaunt,

Affiliations Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom, MRC Integrative Epidemiology Unit (IEU), School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom
⨯
Khalid K. Alharbi,

Affiliation Clinical Laboratory Sciences Department, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh, 11433, Kingdom of Saudi Arabia
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Fahad M. Alsaif,

Affiliation Department of Dermatology, King Saud University, P.O. Box 7805, Riyadh, 11472, Kingdom of Saudi Arabia
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Basma M. Alsaadi,

Affiliation Department of Dermatology, King Saud University, P.O. Box 7805, Riyadh, 11472, Kingdom of Saudi Arabia
⨯
Ian N. M. Day

Affiliation Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom
⨯

Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

A. Mesut Erzurumluoglu,
Muslim M. Alsaadi,
Santiago Rodriguez,
Tahani S. Alotaibi,
Philip A. I. Guthrie,
Sian Lewis,
Aasiya Ginwalla,
Tom R. Gaunt,
Khalid K. Alharbi,
Fahad M. Alsaif

Published: March 23, 2015
https://doi.org/10.1371/journal.pone.0121351

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Sequence alignment
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Dideoxy DNA sequencing
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Homozygosity
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Mutation databases
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Nucleotide sequencing
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Heterozygosity
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Human genomics
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Missense mutation
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