A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
Background: Progressive pseudorheumatoid dysplasia (PPRD) inherited in an autosomal recessive fashion, is a disabling disease, characterized by platyspondyly, irregularities of the vertebral bodies, narrowing of the intervertebral discs and intraarticular spaces, widening of the epiphysis-metaphysis...
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| Format: | Article |
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Frontiers Media S.A.
2019-06-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fped.2019.00245/full |
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| author | Nagwa E. A. Gaboon Asia Parveen Asia Parveen Ahmed El Beheiry Jumana Y. Al-Aama Jumana Y. Al-Aama Mosab S. Alsaedi Naveed Wasif Naveed Wasif Naveed Wasif |
| author_facet | Nagwa E. A. Gaboon Asia Parveen Asia Parveen Ahmed El Beheiry Jumana Y. Al-Aama Jumana Y. Al-Aama Mosab S. Alsaedi Naveed Wasif Naveed Wasif Naveed Wasif |
| author_sort | Nagwa E. A. Gaboon |
| collection | DOAJ |
| description | Background: Progressive pseudorheumatoid dysplasia (PPRD) inherited in an autosomal recessive fashion, is a disabling disease, characterized by platyspondyly, irregularities of the vertebral bodies, narrowing of the intervertebral discs and intraarticular spaces, widening of the epiphysis-metaphysis, polyarthralgia, multiple joint contractures, and disproportionate short stature. A number of studies have been performed on this deformity in various populations around the globe, including the Arab population. Mutations in CCN6, located on 6q22, are reported to cause this anomaly.Case Presentation: The present study describes the investigation of a consanguineous family of Yemeni origin. Clinical examination of the patient revealed short stature with progressive skeletal abnormalities, stiffness and enlargement of small joints of the hands along with restriction of movements of proximal interphalangeal (PIP) and distal interphalangeal (DIP) joints with weakness and gait disturbance. Sanger sequencing revealed a novel homozygous frameshift deletion mutation (c.746delT; p.Val249Glyfs*10) in CCN6 which may lead to NMD (Nonsense mediated decay). This mutation expands the spectrum of pathogenic variants in CCN6 causing PPRD. |
| first_indexed | 2024-12-22T01:30:20Z |
| format | Article |
| id | doaj.art-68002e01e2cd4893842baf47e5ee1667 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-22T01:30:20Z |
| publishDate | 2019-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-68002e01e2cd4893842baf47e5ee16672022-12-21T18:43:30ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602019-06-01710.3389/fped.2019.00245459599A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni FamilyNagwa E. A. Gaboon0Asia Parveen1Asia Parveen2Ahmed El Beheiry3Jumana Y. Al-Aama4Jumana Y. Al-Aama5Mosab S. Alsaedi6Naveed Wasif7Naveed Wasif8Naveed Wasif9Medical Genetics Center, Faculty of Medicine, AinShams University, Cairo, EgyptInstitute of Molecular Biology and Biotechnology, Center for Research in Molecular Medicine, The University of Lahore, Lahore, PakistanFaculty of Life Sciences, University of Central Punjab (UCP), Lahore, PakistanDepartment of Radiodiagnosis and Interventional Radiology, Faculty of Medicine, Alexandria University, Alexandria, EgyptDepartment of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi ArabiaPrincess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi ArabiaDepartment of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi ArabiaInstitute of Molecular Biology and Biotechnology, Center for Research in Molecular Medicine, The University of Lahore, Lahore, PakistanInstitute of Human Genetics, University of Ulm, Ulm, GermanyInstitute of Human Genetics, University Hospital Schleswig-Holstein, Kiel, GermanyBackground: Progressive pseudorheumatoid dysplasia (PPRD) inherited in an autosomal recessive fashion, is a disabling disease, characterized by platyspondyly, irregularities of the vertebral bodies, narrowing of the intervertebral discs and intraarticular spaces, widening of the epiphysis-metaphysis, polyarthralgia, multiple joint contractures, and disproportionate short stature. A number of studies have been performed on this deformity in various populations around the globe, including the Arab population. Mutations in CCN6, located on 6q22, are reported to cause this anomaly.Case Presentation: The present study describes the investigation of a consanguineous family of Yemeni origin. Clinical examination of the patient revealed short stature with progressive skeletal abnormalities, stiffness and enlargement of small joints of the hands along with restriction of movements of proximal interphalangeal (PIP) and distal interphalangeal (DIP) joints with weakness and gait disturbance. Sanger sequencing revealed a novel homozygous frameshift deletion mutation (c.746delT; p.Val249Glyfs*10) in CCN6 which may lead to NMD (Nonsense mediated decay). This mutation expands the spectrum of pathogenic variants in CCN6 causing PPRD.https://www.frontiersin.org/article/10.3389/fped.2019.00245/fullprogressive pseudorheumatoid dysplasia (PPRD)consanguinitynovel frameshift mutationCCN6Nonsense Mediated Decay |
| spellingShingle | Nagwa E. A. Gaboon Asia Parveen Asia Parveen Ahmed El Beheiry Jumana Y. Al-Aama Jumana Y. Al-Aama Mosab S. Alsaedi Naveed Wasif Naveed Wasif Naveed Wasif A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family Frontiers in Pediatrics progressive pseudorheumatoid dysplasia (PPRD) consanguinity novel frameshift mutation CCN6 Nonsense Mediated Decay |
| title | A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family |
| title_full | A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family |
| title_fullStr | A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family |
| title_full_unstemmed | A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family |
| title_short | A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family |
| title_sort | novel homozygous frameshift mutation in ccn6 causing progressive pseudorheumatoid dysplasia pprd in a consanguineous yemeni family |
| topic | progressive pseudorheumatoid dysplasia (PPRD) consanguinity novel frameshift mutation CCN6 Nonsense Mediated Decay |
| url | https://www.frontiersin.org/article/10.3389/fped.2019.00245/full |
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