Recurrent c.776T>C mutation inCHST3with four other novel mutations and a literature review

Duz M. B., Topak A.

CLINICAL DYSMORPHOLOGY, vol.29, no.4, pp.167-172, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 29 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1097/mcd.0000000000000329
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.167-172
  • Bursa Uludag University Affiliated: No


The chondrodysplasia with congenital joint dislocations,CHST3type, which was distinguished by predominantly contractures, marked vertebral changes, and normal facial appearance. Although, some clinical clues can be used for differential diagnosis, it is mostly too difficult to discriminate one type from another on basis of clinical findings only. Eight patients with multiple dislocations from five unrelated families were included in this study to elucidate molecular diagnoses. Clinical exome sequencing (CES) was performed on one patient from each family. Variable degree vertebral changes, pes equinovarus, and kyphoscoliosis accompanied multiple dislocations and short stature. In CES analyses, all mutations showed inCHST3. Previously reported c.776T>C homozygous mutations were detected in two families, compound heterozygous novel c.740G>C and c.881T>C mutations were found in one family, and homozygous novel c.564C>A and c.963G>A mutations were also determined in remaining two families, separately. BiallelicCHST3c.776T>C mutations are most frequent mutation inCHST3and have been reported predominantly in Turkish patients which may be remarkable for genotype-ethnicity correlation in chondrodysplasia with congenital joint dislocations,CHST3type. It is suggested that c.776T>C mutation can be accepted as a recurrent mutation inCHST3for Turkish patients who are suspected of having chondrodysplasia with congenital joint dislocations,CHST3type.