SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women
, , , oraz | 02 maj 2023
O artykule
Article Category: CASE REPORT
Data publikacji: 02 maj 2023
Zakres stron: 83 - 90
DOI: https://doi.org/10.2478/bjmg-2022-0018
Słowa kluczowe
© 2022 Bondarenko M. et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Figure 1.
Figure 2, 3, 4.
The type of inheritance and genes associated with different forms of skeletal dysplasia
| Group or name of the disorder FGFR3 disorders | Mode of Inheritance | Gene Symbol |
|---|---|---|
| Thanatophoric dysplasia | AD | |
| Achonodroplasia | AD | |
| Hypochondroplasia | AD | |
| SADDNA | AD | |
| Achondrogenesis II | AD | |
| Hypochondrogenesis | AD | |
| Spondyloepiphyseal dysplasia congenita (SEDC) | AD | |
| Kniest dysplasia | AD | |
| Fibrochondrogenesis | AR | |
| Fibrochondrogenesis | AD | |
| Otospondylomegaepiphyseal dysplasia (OSMED) | AR | |
| Achondrogenesis IB | AR | |
| Atelosteogenesis II | AR | |
| Diastrophic dysplasia | AR | |
| Chondrodysplasia with congenital joint dslocations | AR | |
| Dyssegmental dysplasia | AR | |
| Dyssegmental dysplasia, Silverman-Handmaker type | AR | |
| Dyssegmental dysplasia, Rolland Desbuquois type | AR | |
| Otopalatodigital syndrome I and II | XLD | |
| Osteodysplasty, Melnick-Needles | XLD | |
| Atelosteogenesis types I and III | AD | |
| Larsen syndrome | AD | |
| Spondylo-carpal-tarsal dysplasia | AR | |
| Serpentine fibula-polycystic kidney syndrome | AD | |
| Metatopic dysplasia | AD | |
| Chondroectodermal dysplasia (Ellis-van Creveld (EVC) | AR | |
| Short-rib polydactyly syndrome I, II, III and IV including Asphxiating Thoracic Dystrophy | AR | |
| Thoracolaryngeal dysplasia | AD | |
| Cartilage-hair hypoplasia | AR | |
| Metaphyseal dysplasia, Jansen type | AD | |
| SEMD, short limb abnormal calcification type | AR | |
| Achondrogenesis 1A | AR | |
| Schneckenbecken dysplasia | AR | |
| Opsismodysplasia | AR | |
| Acromesomelic dysplasia, type Maroteaux | AR | |
| Langer type (homozygoud dyschondrosteosis | pseudo-AR/XLD | |
| Omodysplasia | AR | |
| Robinow syndrome, recessive | AR | |
| Robinow syndrome, dominant | AD | |
| Campomelic dysplasia | AD | |
| Stuve-Wiedemann dysplasia | AR | |
| Bent bone dysplasia FGFR2 type | AD | |
| Microcephalic osteodysplastic primordial dwarfism (MOPD1) | AR | |
| Microcephalic osteodysplastic primordial dwarfism (MOPD2) | AR | |
| Osteocraniostenosis | ||
| Desbuquois dysplasia | AR | |
| Pseudodiatrophic dysplasia | AR | |
| CDP, X-linked dominant | XLD | |
| Conradi-Hunermann type (CDPX2) | XLR | |
| brachytelephalangic type (CDPX1) | XLD | |
| CHILD syndrome | XLD | |
| Greenberg dysplasia | AR | |
| Rhizomelic CDP type 1 | AR | |
| Rhizomelic CDP type 2 | AR | |
| Rhizomelic CDP type 3 | AR | |
| Bloomstrand dysplasia | AR | |
| Desmosterolosis | AR | |
| Caffey disease (infantile) | AD | |
| Raine dysplasia | AR | |
| Osteopetrosis (severe neonatal or infantile forms) | AR | |
| Osteopetrosis (severe neonatal or infantile forms) | AR | |
| Dysosteosclerosis | AR | |
| Lenz-Majewski hyperostostic dysplasia | SP | |
| Osteogenesis imperfecta, moderate, severe and perinatal lethal | AD | |
| Osteogenesis imperfecta, moderate, severe and perinatal lethal | AR | |
| Bruck syndrome | ||
| Osteoporosis-pseudoglioma syndrome | AR | |
| Cole-Carpenter dysplasia | SP | |
| Hypophosphatasia, perinatal and infantile forms | AR | |
The identified in DD patient gene variants.
| GENE | VARIANT | ZYGOSITY | VARIANT CLASSIFICATION |
|---|---|---|---|
| SLC26A2 | c.1020_1022del (p.Val341del) | heterozygous | PATHOGENIC |
| SLC26A2 | c.1957T>A (p.Cys653Ser) | heterozygous | PATHOGENIC |
| LTBP2 | c.3913G>C (p.Asp1305His) | heterozygous | Uncertain Significance |
| TTC21B | c.3932G>A (p.Arg1311His) | heterozygous | Uncertain Significance |