KEGG DISEASE: Spondylocostal dysostosis

DISEASE: Spondylocostal dysostosis

Entry

H00517                      Disease

Name

Spondylocostal dysostosis

Description

Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation during embryonic development due to mutations in Notch pathway genes.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00517  Spondylocostal dysostosis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06511  NOTCH signaling
   H00517  Spondylocostal dysostosis

Pathway

hsa04330

Notch signaling pathway

Network

nt06511 NOTCH signaling

Gene

(SCDO1) DLL3 [HSA:10683] [KO:K06051]
(SCDO2) MESP2 [HSA:145873] [KO:K09076]
(SCDO3) LFNG [HSA:3955] [KO:K05948]
(SCDO4) HES7 [HSA:84667] [KO:K09087]
(SCDO5) TBX6 [HSA:6911] [KO:K10180]
(SCDO6) RIPPLY2 [HSA:134701] [KO:K28315]
(SCDO7) DMRT2 [HSA:10655] [KO:K19489]

Other DBs

ICD-11:

LD24.H

MeSH:

C537565 C535781

OMIM:

277300 608681 609813 613686 122600 616566 621523

Reference

PMID:19995916

Authors

Zanotti S, Canalis E

Title

Notch and the skeleton.

Journal

Mol Cell Biol 30:886-96 (2010)
DOI:10.1128/MCB.01285-09

Reference

PMID:17600784

Authors

Shifley ET, Cole SE

Title

The vertebrate segmentation clock and its role in skeletal birth defects.

Journal

Birth Defects Res C Embryo Today 81:121-33 (2007)
DOI:10.1002/bdrc.20090

Reference

PMID:10742114 (SCDO1)

Authors

Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD

Title

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.

Journal

Nat Genet 24:438-41 (2000)
DOI:10.1038/74307

Reference

PMID:18485326 (SCDO2)

Authors

Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquie O

Title

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.

Journal

Am J Hum Genet 82:1334-41 (2008)
DOI:10.1016/j.ajhg.2008.04.014

Reference

PMID:16385447 (SCDO3)

Authors

Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL

Title

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.

Journal

Am J Hum Genet 78:28-37 (2006)
DOI:10.1086/498879

Reference

PMID:20087400 (SCDO4)

Authors

Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL

Title

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.

Journal

Eur J Hum Genet 18:674-9 (2010)
DOI:10.1038/ejhg.2009.241

Reference

PMID:23335591 (SCDO5)

Authors

Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL

Title

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Journal

Hum Mol Genet 22:1625-31 (2013)
DOI:10.1093/hmg/ddt012

Reference

PMID:25343988 (SCDO6)

Authors

McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL

Title

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

Journal

Hum Mol Genet 24:1234-42 (2015)
DOI:10.1093/hmg/ddu534

Reference

PMID:29681102 (SCDO7)

Authors

Bouman A, Waisfisz Q, Admiraal J, van de Loo M, van Rijn RR, Micha D, Oostra RJ, Mathijssen IB

Title

Homozygous DMRT2 variant associates with severe rib malformations in a newborn.

Journal

Am J Med Genet A 176:1216-1221 (2018)
DOI:10.1002/ajmg.a.38668

LinkDB

» Japanese version

DBGET integrated database retrieval system