A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report

Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We pr...

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Detalles Bibliográficos
Autores principales: Kochar, Inder Pal Singh, Sethi, Aashish, Ahamad, Ayesha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444763/
https://www.ncbi.nlm.nih.gov/pubmed/30967749
http://dx.doi.org/10.1177/1179547619837234
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author Kochar, Inder Pal Singh
Sethi, Aashish
Ahamad, Ayesha
author_facet Kochar, Inder Pal Singh
Sethi, Aashish
Ahamad, Ayesha
author_sort Kochar, Inder Pal Singh
collection PubMed
description Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We present a case of pycnodysostosis who presented with short stature, acro-osteolysis of distal phalanges, and on genetic testing revealing a variant c.847T>C, p.Y283H, in exon 7 of the CTSK in homozygous state: not reported till date to the best of our knowledge.
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spelling pubmed-64447632019-04-09 A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report Kochar, Inder Pal Singh Sethi, Aashish Ahamad, Ayesha Clin Med Insights Case Rep Case Report Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We present a case of pycnodysostosis who presented with short stature, acro-osteolysis of distal phalanges, and on genetic testing revealing a variant c.847T>C, p.Y283H, in exon 7 of the CTSK in homozygous state: not reported till date to the best of our knowledge. SAGE Publications 2019-04-01 /pmc/articles/PMC6444763/ /pubmed/30967749 http://dx.doi.org/10.1177/1179547619837234 Text en © The Author(s) 2019 http://www.creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Kochar, Inder Pal Singh
Sethi, Aashish
Ahamad, Ayesha
A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report
title A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report
title_full A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report
title_fullStr A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report
title_full_unstemmed A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report
title_short A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report
title_sort novel variant c.847t>c in ctsk gene leading to pycnodysostosis: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444763/
https://www.ncbi.nlm.nih.gov/pubmed/30967749
http://dx.doi.org/10.1177/1179547619837234
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