A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.
Taiwan J Obstet Gynecol
; 60(2): 359-362, 2021 Mar.
Article
in En
| MEDLINE
| ID: mdl-33678343
ABSTRACT
OBJECTIVE:
Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owing to a genetic mutation in COL2A1. CASE REPORT We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. However, the bilateral femur and humerus length symmetrically shortened after 20 weeks. Next-generation sequencing for mutations in potential genes leading to skeletal dysplasia detected a novel de novo mutation (c.1438G > A, p.Gly480Arg) in COL2A1, causing Stickler syndrome type 1. This pathogenic mutation might impair or destabilize the collagen structure, leading to collagen type II, IX, and XI dysfunction.CONCLUSION:
We identified a novel de novo mutation in COL2A1 related to the STL1 syndrome and delineated the extent of the skeletal dysplasia disease spectrum.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Arthritis
/
Retinal Detachment
/
Connective Tissue Diseases
/
Collagen Type II
/
Hearing Loss, Sensorineural
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Taiwan J Obstet Gynecol
Journal subject:
GINECOLOGIA
/
OBSTETRICIA
Year:
2021
Type:
Article
Affiliation country:
Taiwan