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Spermatogenic failure 13(SPGF13)

MedGen UID:
862886
Concept ID:
C4014449
Disease or Syndrome
Synonym: SPGF13
 
Gene (location): TAF4B (18q11.2)
 
Monarch Initiative: MONDO:0014365
OMIM®: 615841

Definition

Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene. [from MONDO]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Absence of any measurable level of sperm in his semen.

Professional guidelines

PubMed

Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article

Recent clinical studies

Etiology

Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF
Nat Commun 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. PMID: 36572685Free PMC Article
Cerván-Martín M, Bossini-Castillo L, Guzmán-Jiménez A, Rivera-Egea R, Garrido N, Lujan S, Romeu G, Santos-Ribeiro S; IVIRMA Group; Lisbon Clinical Group, Castilla JA, Gonzalvo MDC, Clavero A, Maldonado V, Vicente FJ, Burgos M, Jiménez R, González-Muñoz S, Sánchez-Curbelo J, López-Rodrigo O, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Palomino-Morales RJ, Carmona FD
Andrology 2022 Oct;10(7):1339-1350. Epub 2022 Jul 8 doi: 10.1111/andr.13221. PMID: 35752927Free PMC Article
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Chen P, Wang X, Xu C, Xiao H, Zhang WH, Wang XH, Zhang XH
Asian J Androl 2016 Jan-Feb;18(1):96-101. doi: 10.4103/1008-682X.153542. PMID: 25994644Free PMC Article
Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF
PLoS Genet 2013 Mar;9(3):e1003349. Epub 2013 Mar 21 doi: 10.1371/journal.pgen.1003349. PMID: 23555275Free PMC Article

Diagnosis

Jiang Y, Yang X, Li L, Lv X, Wang R, Zhang H, Liu R
Sci Rep 2023 Jul 27;13(1):12164. doi: 10.1038/s41598-023-38947-4. PMID: 37500704Free PMC Article
Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF
Nat Commun 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. PMID: 36572685Free PMC Article
Hardy J, Pollock N, Gingrich T, Sweet P, Ramesh A, Kuong J, Basar A, Jiang H, Hwang K, Vukina J, Jaffe T, Olszewska M, Kurpisz M, Yatsenko AN
J Assist Reprod Genet 2022 Sep;39(9):2103-2114. Epub 2022 Jul 18 doi: 10.1007/s10815-022-02538-5. PMID: 35849255Free PMC Article
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article
Dong Y, Pan Y, Wang R, Zhang Z, Xi Q, Liu RZ
Genet Mol Res 2015 Dec 7;14(4):16041-9. doi: 10.4238/2015.December.7.17. PMID: 26662397

Therapy

Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552
Sciurano RB, Rahn MI, Rey-Valzacchi G, Coco R, Solari AJ
Int J Androl 2012 Aug;35(4):541-9. Epub 2011 Oct 7 doi: 10.1111/j.1365-2605.2011.01221.x. PMID: 21977946
Gu Y, Liang X, Wu W, Liu M, Song S, Cheng L, Bo L, Xiong C, Wang X, Liu X, Peng L, Yao K
J Clin Endocrinol Metab 2009 Jun;94(6):1910-5. Epub 2009 Mar 17 doi: 10.1210/jc.2008-1846. PMID: 19293262
Hamamah S, Seguin F, Bujan L, Barthelemy C, Mieusset R, Lansac J
Hum Reprod 1998 Jan;13(1):132-5. doi: 10.1093/humrep/13.1.132. PMID: 9512244

Prognosis

Jiang Y, Yang X, Li L, Lv X, Wang R, Zhang H, Liu R
Sci Rep 2023 Jul 27;13(1):12164. doi: 10.1038/s41598-023-38947-4. PMID: 37500704Free PMC Article
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article
Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Terribas E, Bonache S, García-Arévalo M, Sánchez J, Franco E, Bassas L, Larriba S
J Androl 2010 Jul-Aug;31(4):346-57. Epub 2010 Jan 14 doi: 10.2164/jandrol.109.008805. PMID: 20075417

Clinical prediction guides

Jiang Y, Yang X, Li L, Lv X, Wang R, Zhang H, Liu R
Sci Rep 2023 Jul 27;13(1):12164. doi: 10.1038/s41598-023-38947-4. PMID: 37500704Free PMC Article
Cerván-Martín M, Bossini-Castillo L, Guzmán-Jiménez A, Rivera-Egea R, Garrido N, Lujan S, Romeu G, Santos-Ribeiro S; IVIRMA Group; Lisbon Clinical Group, Castilla JA, Gonzalvo MDC, Clavero A, Maldonado V, Vicente FJ, Burgos M, Jiménez R, González-Muñoz S, Sánchez-Curbelo J, López-Rodrigo O, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Palomino-Morales RJ, Carmona FD
Andrology 2022 Oct;10(7):1339-1350. Epub 2022 Jul 8 doi: 10.1111/andr.13221. PMID: 35752927Free PMC Article
Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Waseem AS, Singh V, Makker GC, Trivedi S, Mishra G, Singh K, Rajender S
J Assist Reprod Genet 2020 Feb;37(2):459-469. Epub 2020 Jan 9 doi: 10.1007/s10815-019-01661-0. PMID: 31919744Free PMC Article

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