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Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods
Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by pathogenic variants of cartilage oligomeric matrix protein (COMP). Clinical symptoms of PSACH are characterized by growth disturbances after the first year of life. These disturbances lead to severe short stature with...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Japanese Society for Pediatric Endocrinology
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568574/ https://www.ncbi.nlm.nih.gov/pubmed/37842142 http://dx.doi.org/10.1297/cpe.2023-0035 |
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author | Hasegawa, Kosei Futagawa, Natsuko Ago, Yuko Miyahara, Hiroyuki Harada, Daisuke Miyazawa, Mari Yoshimoto, Junko Baba, Kenji Moriwake, Tadashi Tanaka, Hiroyuki Tsukahara, Hirokazu |
author_facet | Hasegawa, Kosei Futagawa, Natsuko Ago, Yuko Miyahara, Hiroyuki Harada, Daisuke Miyazawa, Mari Yoshimoto, Junko Baba, Kenji Moriwake, Tadashi Tanaka, Hiroyuki Tsukahara, Hirokazu |
author_sort | Hasegawa, Kosei |
collection | PubMed |
description | Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by pathogenic variants of cartilage oligomeric matrix protein (COMP). Clinical symptoms of PSACH are characterized by growth disturbances after the first year of life. These disturbances lead to severe short stature with short limbs, brachydactyly, scoliosis, joint laxity, joint pain since childhood, and a normal face. Epimetaphyseal dysplasia, shortened long bones, and short metacarpals and phalanges are common findings on radiological examination. Additionally, anterior tonguing of the vertebral bodies in the lateral view is an important finding in childhood because it is specific to PSACH and normalizes with age. Here, we report five Japanese patients with PSACH, with one recurrent (p.Cys351Tyr) and four novel heterozygous pathogenic COMP variants (p.Asp437Tyr, p.Asp446Gly, p.Asp507Tyr, and p.Asp518Val). These five pathogenic variants were located in the calcium-binding type 3 (T3) repeats. In four of the novel variants, the affected amino acid was aspartic acid, which is abundant in each of the eight T3 repeats. We describe the radiological findings of these five patients. We also retrospectively analyzed the sequential changes in the vertebral body and epimetaphysis of the long bones from the neonatal to infantile periods in a patient with PSACH and congenital heart disease. |
format | Online Article Text |
id | pubmed-10568574 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | The Japanese Society for Pediatric Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-105685742023-10-13 Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods Hasegawa, Kosei Futagawa, Natsuko Ago, Yuko Miyahara, Hiroyuki Harada, Daisuke Miyazawa, Mari Yoshimoto, Junko Baba, Kenji Moriwake, Tadashi Tanaka, Hiroyuki Tsukahara, Hirokazu Clin Pediatr Endocrinol Original Article Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by pathogenic variants of cartilage oligomeric matrix protein (COMP). Clinical symptoms of PSACH are characterized by growth disturbances after the first year of life. These disturbances lead to severe short stature with short limbs, brachydactyly, scoliosis, joint laxity, joint pain since childhood, and a normal face. Epimetaphyseal dysplasia, shortened long bones, and short metacarpals and phalanges are common findings on radiological examination. Additionally, anterior tonguing of the vertebral bodies in the lateral view is an important finding in childhood because it is specific to PSACH and normalizes with age. Here, we report five Japanese patients with PSACH, with one recurrent (p.Cys351Tyr) and four novel heterozygous pathogenic COMP variants (p.Asp437Tyr, p.Asp446Gly, p.Asp507Tyr, and p.Asp518Val). These five pathogenic variants were located in the calcium-binding type 3 (T3) repeats. In four of the novel variants, the affected amino acid was aspartic acid, which is abundant in each of the eight T3 repeats. We describe the radiological findings of these five patients. We also retrospectively analyzed the sequential changes in the vertebral body and epimetaphysis of the long bones from the neonatal to infantile periods in a patient with PSACH and congenital heart disease. The Japanese Society for Pediatric Endocrinology 2023-09-16 2023 /pmc/articles/PMC10568574/ /pubmed/37842142 http://dx.doi.org/10.1297/cpe.2023-0035 Text en 2023©The Japanese Society for Pediatric Endocrinology https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. (CC-BY-NC-ND 4.0: http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ). |
spellingShingle | Original Article Hasegawa, Kosei Futagawa, Natsuko Ago, Yuko Miyahara, Hiroyuki Harada, Daisuke Miyazawa, Mari Yoshimoto, Junko Baba, Kenji Moriwake, Tadashi Tanaka, Hiroyuki Tsukahara, Hirokazu Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods |
title | Novel and recurrent COMP gene variants in five Japanese
patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile
periods |
title_full | Novel and recurrent COMP gene variants in five Japanese
patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile
periods |
title_fullStr | Novel and recurrent COMP gene variants in five Japanese
patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile
periods |
title_full_unstemmed | Novel and recurrent COMP gene variants in five Japanese
patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile
periods |
title_short | Novel and recurrent COMP gene variants in five Japanese
patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile
periods |
title_sort | novel and recurrent comp gene variants in five japanese
patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile
periods |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568574/ https://www.ncbi.nlm.nih.gov/pubmed/37842142 http://dx.doi.org/10.1297/cpe.2023-0035 |
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