From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a <i>CANT1</i> Variant Across Five Unrelated Families
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.197, sa.4, 2025 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 197 Sayı: 4
- Basım Tarihi: 2025
- Doi Numarası: 10.1002/ajmg.a.63950
- Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Anahtar Kelimeler: CANT1, Desbuquois dysplasia, epiphyseal dysplasia, Kim variant, MED
- Hacettepe Üniversitesi Adresli: Evet
Özet
Multiple epiphyseal dysplasia (MED) is a heterogeneous group of chondrodysplasia characterized by arthralgia, early onset osteoarthropathy, and the radiographic findings of small, flat, and irregular-shaped epiphyses. Some patients with MED have mild short stature as well. MED is genetically heterogeneous caused by pathogenic variants in COMP, MATN3, COL9A1, COL9A2, COL9A3, and SLC26A2. In 2017, pathogenic variants in CANT1, which are responsible for Desbuquois dysplasia, have also been reported in the genetic etiology of MED. To date, only three patients have been reported with CANT1-related MED. Herein, we present clinical and radiographic findings of six additional patients from five unrelated families, all sharing the same c.375G > C; p.(Trp125Cys) variant in CANT1 gene. These patients exhibited the features of multiple epiphyseal dysplasia, along with some similarities to Desbuquois dysplasia, thereby broadening the clinical spectrum of CANT1-related disorders.