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SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women Cover

SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women

Balkan Journal of Medical Genetics
Volume 25 (2022): Issue 2 (December 2022)
By: M. Bondarenko,  I. Haiboniuk,  I. Solovei,  Y. Shargorodska and  H. Makukh  
Open Access
|May 2023

Figures & Tables

Figure 1.

MRI findings of DD patient: Scoliosis (4th grade), osteochondrosis, spondyloarthritis of the spine. Protrusions of disks C3-C4, C4-C5, C5-C6, C6-C7, L5-S1
MRI findings of DD patient: Scoliosis (4th grade), osteochondrosis, spondyloarthritis of the spine. Protrusions of disks C3-C4, C4-C5, C5-C6, C6-C7, L5-S1

Figure 2, 3, 4.

The phenotypic traits of DD patient: brachydactylia (short fingers), absence of flexion creases of the fingers, and proximally placed, abducted «hitchhiker thumb».
The phenotypic traits of DD patient: brachydactylia (short fingers), absence of flexion creases of the fingers, and proximally placed, abducted «hitchhiker thumb».

The type of inheritance and genes associated with different forms of skeletal dysplasia

Group or name of the disorder FGFR3 disordersMode of InheritanceGene Symbol
Thanatophoric dysplasiaADFGFR3
AchonodroplasiaADFGFR3
HypochondroplasiaADFGFR3
SADDNAADFGFR3
Type II collagen disorders
Achondrogenesis IIADCOL2A1
HypochondrogenesisADCOL2A1
Spondyloepiphyseal dysplasia congenita (SEDC)ADCOL2A1
Kniest dysplasiaADCOL2A1
Type X1 collagen disorders
FibrochondrogenesisARCOL11A1
FibrochondrogenesisADCOL11A1, COL11A2
Otospondylomegaepiphyseal dysplasia (OSMED)ARCOL11A2
Sulfation disorders
Achondrogenesis IBARSLC26A2
Atelosteogenesis IIARSLC26A2
Diastrophic dysplasiaARSLC26A2
Chondrodysplasia with congenital joint dslocationsARCHST3
Perlecan disorders
Dyssegmental dysplasiaARPLC
Dyssegmental dysplasia, Silverman-Handmaker typeARPLC
Dyssegmental dysplasia, Rolland Desbuquois typeARPLC
Filamin Disorders and similar disorders
Otopalatodigital syndrome I and IIXLDFLNA
Osteodysplasty, Melnick-NeedlesXLDFLNA
Atelosteogenesis types I and IIIADFLNB
Larsen syndromeADFLNB
Spondylo-carpal-tarsal dysplasiaARFLNB
Serpentine fibula-polycystic kidney syndromeADNOTCH2
TRPV4 disorders
Metatopic dysplasiaADTRPV4
Short-rib dysplasias (with and without polydactyly)
Chondroectodermal dysplasia (Ellis-van Creveld (EVC)AREVC1, EVC2
Short-rib polydactyly syndrome I, II, III and IV including Asphxiating Thoracic DystrophyARDYNC2H1,IFT80NEKWDR35WDR19WDR34
Thoracolaryngeal dysplasiaADunknown
Metaphyseal dysplasias
Cartilage-hair hypoplasiaARRMRP
Metaphyseal dysplasia, Jansen typeADPTHR1
Spondylo-epi-(meta)-physeal dysplasia
SEMD, short limb abnormal calcification typeARDDR2
Severe spondylodysplastic dysplasias
Achondrogenesis 1AARGMAP210
Schneckenbecken dysplasiaARSLC35D1
OpsismodysplasiaARINPPL1
Acromesomelic disorders
Acromesomelic dysplasia, type MaroteauxARNPR2
Mesomelic and rhizo-mesomelic dysplasias
Langer type (homozygoud dyschondrosteosispseudo-AR/XLDSHOX
OmodysplasiaARGPC6
Robinow syndrome, recessiveARROR2
Robinow syndrome, dominantADWNT5
Bent bone dysplasias
Campomelic dysplasiaADSOX9
Stuve-Wiedemann dysplasiaARLIFR
Bent bone dysplasia FGFR2 typeADFGFR2
Slender bone dysplasias
Microcephalic osteodysplastic primordial dwarfism (MOPD1)ARRNU4ATAC
Microcephalic osteodysplastic primordial dwarfism (MOPD2)ARPCNT
Osteocraniostenosis FAM111A
Dysplasias with multiple joint dislocations
Desbuquois dysplasiaARCANT1, XYLT1
Pseudodiatrophic dysplasiaARunknown
Chondrodysplasia punctata group (CDP)
CDP, X-linked dominantXLDEBP
Conradi-Hunermann type (CDPX2)XLRARSE
brachytelephalangic type (CDPX1)XLDNSDHL
CHILD syndromeXLDEBP
Greenberg dysplasiaARLBR
Rhizomelic CDP type 1ARPEX7
Rhizomelic CDP type 2ARDHPAT
Rhizomelic CDP type 3ARAGPS
Neonatal osteosclerotic dysplasias
Bloomstrand dysplasiaARPTHR1
DesmosterolosisARDHCR24
Caffey disease (infantile)ADCOL1A1
Raine dysplasiaARFAM20C
Increased bone density group
Osteopetrosis (severe neonatal or infantile forms)ARTCIRG1
Osteopetrosis (severe neonatal or infantile forms)ARCLCN7
DysosteosclerosisARSLC29A3
Lenz-Majewski hyperostostic dysplasiaSPPTDSS1
Osteogenesis imperfecta and decreased bone density group
Osteogenesis imperfecta, moderate, severe and perinatal lethalADCOL1A1, COL1A2 IFITM5
Osteogenesis imperfecta, moderate, severe and perinatal lethalARCRTAPP3H1PPBIFKBP10HSP47SP7WNT1TMEM33B
Bruck syndrome PLOD2FKBP10
Osteoporosis-pseudoglioma syndromeARLRP5
Cole-Carpenter dysplasiaSPunknown
Abnormal mineralization group
Hypophosphatasia, perinatal and infantile formsARALPL

The identified in DD patient gene variants_

GENEVARIANTZYGOSITYVARIANT CLASSIFICATION
SLC26A2c.1020_1022del (p.Val341del)heterozygousPATHOGENIC
SLC26A2c.1957T>A (p.Cys653Ser)heterozygousPATHOGENIC
LTBP2c.3913G>C (p.Asp1305His)heterozygousUncertain Significance
TTC21Bc.3932G>A (p.Arg1311His)heterozygousUncertain Significance
DOI: https://doi.org/10.2478/bjmg-2022-0018 | Journal eISSN: 2199-5761
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Language: English
Page range: 83 - 90
Published on: May 2, 2023
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Diastrophic Dysplasia,
mutation,
Ukraine
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2023 M. Bondarenko, I. Haiboniuk, I. Solovei, Y. Shargorodska, H. Makukh, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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