Short-rib thoracic dysplasia

Definition:

Short-rib thoracic dysplasia (SRTD) is a group of autosomal recessive skeletal ciliopathies. The ciliary machinery has been implicated in more than a dozen disorders, now called ciliopathies. Primary cilia play a vital role in transduction of signals in the hedgehog pathway that is especially important in skeletal development.

References:

[1]. A Hammarsjö, et al. Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. Sci Rep. 2017 Nov 14;7(1):15585. [Content Brief]

[2]. Aideen M McInerney-Leo, et al. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet. 2013 Sep 5;93(3):515-23. [Content Brief]

[3]. Caroline Alby, et al. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Am J Hum Genet. 2015 Aug 6;97(2):311-8. [Content Brief]

[4]. Cecilie Bredrup, et al. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11;89(5):634-43. [Content Brief]

[5]. Celine Huber, et al. Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. [Content Brief]

[6]. Christian Thiel, et al. NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet. 2011 Jan 7;88(1):106-14. [Content Brief]

[7]. Erica E Davis, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar;43(3):189-96. [Content Brief]

[8]. Isabelle Perrault, et al. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet. 2012 May 4;90(5):864-70. [Content Brief]

[9]. Ivan Duran, et al. Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. Sci Rep. 2016 Sep 26;6:34232. [Content Brief]

[10]. Ivan Duran, et al. Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. Cilia. 2017 Apr 10;6:7. [Content Brief]

[11]. Jan Halbritter, et al. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 2013 Nov 7;93(5):915-25. [Content Brief]

[12]. K M Girisha, et al. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clin Genet. 2016 Dec;90(6):536-539. [Content Brief]

[13]. Michinori Toriyama, et al. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 Jun;48(6):648-56. [Content Brief]

[14]. Miriam Schmidts, et al. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2013 Nov 7;93(5):932-44. [Content Brief]

[15]. Miriam Schmidts, et al. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 5;6:7074. [Content Brief]

[16]. Nathalie Dagoneau, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009 May;84(5):706-11. [Content Brief]

[17]. Philip L Beales, et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. [Content Brief]

[18]. Pleasantine Mill, et al. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet. 2011 Apr 8;88(4):508-15. [Content Brief]

[19]. Ranad Shaheen, et al. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet. 2015 Mar 1;24(5):1410-9. [Content Brief]

[20]. S Paige Taylor, et al. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun. 2015 Jun 16;6:7092. [Content Brief]

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