Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods.

Autor:	Hasegawa K; Department of Pediatrics, Okayama University Hospital, Okayama, Japan., Futagawa N; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.; Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan., Ago Y; Department of Pediatrics, Okayama University Hospital, Okayama, Japan., Miyahara H; Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan., Harada D; Department of Pediatrics, JCHO Osaka Hospital, Osaka, Japan., Miyazawa M; Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan., Yoshimoto J; Department of Pediatrics, Okayama University Hospital, Okayama, Japan., Baba K; Department of Pediatrics, Okayama University Hospital, Okayama, Japan., Moriwake T; Department of Pediatrics, Iwakuni Clinical Center, National Hospital Organization, Iwakuni, Japan., Tanaka H; Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, Japan., Tsukahara H; Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Jazyk:	angličtina
Zdroj:	Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology [Clin Pediatr Endocrinol] 2023; Vol. 32 (4), pp. 221-227. Date of Electronic Publication: 2023 Sep 16.
DOI:	10.1297/cpe.2023-0035
Abstrakt:	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. Competing Interests: Hiroyuki Tanaka received honoraria for lecture fees from KYOWA KIRIN Co., Ltd. No other authors have any financial support or relationships that may pose a conflict of interest. (2023©The Japanese Society for Pediatric Endocrinology.)
Databáze:	MEDLINE
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