右側心房相同 (RAI)

Sutherland MJ, Ware SM

Disorders of left-right asymmetry: heterotaxy and situs inversus.

Am J Med Genet C Semin Med Genet 151C:307-17 (2009)
DOI:10.1002/ajmg.c.30228

Casey B

Genetics of human situs abnormalities.

Am J Med Genet 101:356-8 (2001)
DOI:10.1002/ajmg.1220

Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B

X-linked situs abnormalities result from mutations in ZIC3.

Nat Genet 17:305-8 (1997)
DOI:10.1038/ng1197-305

Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

Nat Genet 26:365-9 (2000)
DOI:10.1038/81695

Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA, Casey B

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.

Am J Med Genet 82:70-6 (1999)
DOI:10.1002/(sici)1096-8628(19990101)82:1<70::aid-ajmg14>3.0.co;2-y

Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

Hum Mol Genet 18:861-71 (2009)
DOI:10.1093/hmg/ddn411

Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O

A human laterality disorder associated with recessive CCDC11 mutation.

J Med Genet 49:386-90 (2012)
DOI:10.1136/jmedgenet-2011-100457

Perles Z, Moon S, Ta-Shma A, Yaacov B, Francescatto L, Edvardson S, Rein AJ, Elpeleg O, Katsanis N

A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

J Med Genet 52:840-7 (2015)
DOI:10.1136/jmedgenet-2015-103336

Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

Am J Hum Genet 99:886-893 (2016)
DOI:10.1016/j.ajhg.2016.07.011

Leslie JS, Rawlins LE, Chioza BA, Olubodun OR, Salter CG, Fasham J, Jones HF, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, Crosby AH, Baple EL

MNS1 variant associated with situs inversus and male infertility.

Eur J Hum Genet 28:50-55 (2020)
DOI:10.1038/s41431-019-0489-z

Dougherty GW, Mizuno K, Nothe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij R, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strunker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Grosse-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Hoben IM, Junger K, Gutzlaff J, Cindric S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis EE, Amirav I, Hamada H, Omran H

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

Nat Commun 11:5520 (2020)
DOI:10.1038/s41467-020-19113-0

Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.

Nat Genet 54:62-72 (2022)
DOI:10.1038/s41588-021-00970-4

Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

J Med Genet 59:691-696 (2022)
DOI:10.1136/jmedgenet-2021-107775

Szenker-Ravi E, Ott T, Yusof A, Chopra M, Khatoo M, Pak B, Xuan Goh W, Beckers A, Brady AF, Ewans LJ, Djaziri N, Almontashiri NAM, Alghamdi MA, Alharby E, Dasouki M, Romo L, Tan WH, Maddirevula S, Alkuraya FS, Giordano JL, Alkelai A, Wapner RJ, Stals K, Alfadhel M, Alswaid AF, Bogusch S, Schafer-Kosulya A, Vogel S, Vick P, Schweickert A, Wakeling M, Moreau de Bellaing A, Alshamsi AM, Sanlaville D, Mbarek H, Saad C, Ellard S, Eisenhaber F, Tripolszki K, Beetz C, Bauer P, Gossler A, Eisenhaber B, Blum M, Bouvagnet P, Bertoli-Avella A, Amiel J, Gordon CT, Reversade B

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Am J Hum Genet S0002-9297(24)00448-8 (2024)
DOI:10.1016/j.ajhg.2024.12.006

Kaasinen E, Aittomaki K, Eronen M, Vahteristo P, Karhu A, Mecklin JP, Kajantie E, Aaltonen LA, Lehtonen R

Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).

Hum Mol Genet 19:2747-53 (2010)
DOI:10.1093/hmg/ddq164