دورية أكاديمية
أعرض في EDS

Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.

التفاصيل البيبلوغرافية
العنوان: Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
المؤلفون: Erzurumluoglu AM; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom., Alsaadi MM; College of Medicine, Pediatric Department, King Saud University, P.O. Box 50807, Riyadh, 11533, Kingdom of Saudi Arabia., Rodriguez S; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom., Alotaibi TS; College of Medicine, Pediatric Department, King Saud University, P.O. Box 50807, Riyadh, 11533, Kingdom of Saudi Arabia., Guthrie PA; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom., Lewis S; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom., Ginwalla A; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom., Gaunt TR; 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., Alharbi KK; Clinical Laboratory Sciences Department, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh, 11433, Kingdom of Saudi Arabia., Alsaif FM; Department of Dermatology, King Saud University, P.O. Box 7805, Riyadh, 11472, Kingdom of Saudi Arabia., Alsaadi BM; Department of Dermatology, King Saud University, P.O. Box 7805, Riyadh, 11472, Kingdom of Saudi Arabia., Day IN; Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom.
المصدر: PloS one [PLoS One] 2015 Mar 23; Vol. 10 (3), pp. e0121351. Date of Electronic Publication: 2015 Mar 23 (Print Publication: 2015).
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
أسماء مطبوعة: Original Publication: San Francisco, CA : Public Library of Science
مواضيع طبية MeSH: Mutation, Missense*, Cathepsin C/*genetics , Papillon-Lefevre Disease/*diagnosis , Sequence Analysis, DNA/*methods, Arabs/legislation & jurisprudence ; Consanguinity ; Exome ; Female ; Humans ; Male ; Papillon-Lefevre Disease/genetics ; Pedigree ; Saudi Arabia
مستخلص: Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and palmoplantar hyperkeratosis. A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identified in a homozygous state in two siblings diagnosed with PLS in a consanguineous family of Arabic ancestry. The variant was initially identified in a heterozygous state in a PLS unaffected sibling whose whole exome had been sequenced as part of a previous Primary ciliary dyskinesia study. Using this information, a proxy molecular diagnosis was made on the PLS affected siblings after consent was given to study this second disorder found to be segregating within the family. The prevalence of the mutation was then assayed in the local population using a representative sample of 256 unrelated individuals. The variant was absent in all subjects indicating that the variant is rare in Saudi Arabia. This family study illustrates how whole-exome sequencing can generate findings and inferences beyond its primary goal.
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معلومات مُعتمدة: MC_UU_12013/8 United Kingdom Medical Research Council
المشرفين على المادة: EC 3.4.14.1 (CTSC protein, human)
EC 3.4.14.1 (Cathepsin C)
تواريخ الأحداث: Date Created: 20150324 Date Completed: 20160222 Latest Revision: 20181113
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC4370501
DOI: 10.1371/journal.pone.0121351
PMID: 25799584
قاعدة البيانات: MEDLINE
الوصف
تدمد:1932-6203
DOI:10.1371/journal.pone.0121351