窒息性胸郭ジストロフィー [DS:H00751]
短肋骨多指症候群 [DS:H00511]

Huber C, Cormier-Daire V

Ciliary disorder of the skeleton.

Am J Med Genet C Semin Med Genet 160C:165-74 (2012)
DOI:10.1002/ajmg.c.31336

Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

Nat Genet 39:727-9 (2007)
DOI:10.1038/ng2038

Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

Am J Hum Genet 84:706-11 (2009)
DOI:10.1016/j.ajhg.2009.04.016

Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tonshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attie-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Nat Genet 43:189-96 (2011)
DOI:10.1038/ng.756

Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbo M, Filhol E, Bole-Feysot C, Nitschke P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19.

Am J Hum Genet 89:634-43 (2011)
DOI:10.1016/j.ajhg.2011.10.001

Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandstatter JH, Rauch A

NEK1 mutations cause short-rib polydactyly syndrome type majewski.

Am J Hum Genet 88:106-14 (2011)
DOI:10.1016/j.ajhg.2010.12.004

Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Am J Hum Genet 88:508-15 (2011)
DOI:10.1016/j.ajhg.2011.03.015

McInerney-Leo AM, Schmidts M, Cortes CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

Am J Hum Genet 93:515-23 (2013)
DOI:10.1016/j.ajhg.2013.06.022

Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Am J Hum Genet 90:864-70 (2012)
DOI:10.1016/j.ajhg.2012.03.006

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschke P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabo AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Am J Hum Genet 93:915-25 (2013)
DOI:10.1016/j.ajhg.2013.09.012

Schmidts M, Vodopiutz J, Christou-Savina S, Cortes CR, McInerney-Leo AM, Emes RD, Arts HH, Tuysuz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elcioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C, Duncan EL, Mitchison HM

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Am J Hum Genet 93:932-44 (2013)
DOI:10.1016/j.ajhg.2013.10.003

Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Hum Mol Genet 24:1410-9 (2015)
DOI:10.1093/hmg/ddu555

Alby C, Piquand K, Huber C, Megarbane A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessieres B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabo H, Failler M, Garfa-Traore M, Bole C, Nitschke P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attie-Bitach T, Thomas S

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Am J Hum Genet 97:311-8 (2015)
DOI:10.1016/j.ajhg.2015.06.003

Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS, Nelson SF, Cohn DH, Vallee RB, Krakow D

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

Nat Commun 6:7092 (2015)
DOI:10.1038/ncomms8092

Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R, Rolfs A

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

Clin Genet 90:536-539 (2016)
DOI:10.1111/cge.12762

Schmidts M, Hou Y, Cortes CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Nat Commun 6:7074 (2015)
DOI:10.1038/ncomms8074

Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

Cilia 6:7 (2017)
DOI:10.1186/s13630-017-0051-y

Duran I, Taylor SP, Zhang W, Martin J, Forlenza KN, Spiro RP, Nickerson DA, Bamshad M, Cohn DH, Krakow D

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

Sci Rep 6:34232 (2016)
DOI:10.1038/srep34232

Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, Duffourd Y, Faivre L, Riviere JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

Nat Genet 48:648-56 (2016)
DOI:10.1038/ng.3558

Hammarsjo A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Sci Rep 7:15585 (2017)
DOI:10.1038/s41598-017-15442-1