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Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature


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Blackless M, Charuvastra A, Denyck A, Fausto-Sterling A, Lauzanne K, Lee E. How sexually dimorphic are we? Review and synthesis. Am J Hum Biol. 2000; 12(2): 151-66.1153401210.1002/(SICI)1520-6300(200003/04)12:2<151::AID-AJHB1>3.0.CO;2-FBlacklessMCharuvastraADenyckAFausto-SterlingALauzanneKLeeEHow sexually dimorphic are we? Review and synthesisAm J Hum Biol200012215166Search in Google Scholar

Springer A, van den Heijkant M, Baumann S. Worldwide prevalence of hypospadias. J Pediatr Urol. 2016; 12(3): 152el-e7.SpringerAvanden Heijkant MBaumannSWorldwide prevalence of hypospadiasJ Pediatr Urol2016123152ele710.1016/j.jpurol.2015.12.002Search in Google Scholar

Hughes IA, Nihoul-Fekete C, Thomas B, Cohen-Kettenis PT. Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. Best Pract Res Clin Endocrinol Metab. 2007; 21(3): 351-365.10.1016/j.beem.2007.06.00317875484HughesIANihoul-FeketeCThomasBCohen-KettenisPTConsequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex developmentBest Pract Res Clin Endocrinol Metab2007213351365Open DOISearch in Google Scholar

de la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981; 58(1): 105-116.694528610.1007/BF00284157dela Chapelle AThe etiology of maleness in XX menHum Genet1981581105116Search in Google Scholar

Johnson JA, Aughton DJ, Comstock CH, von Oeyen PT, Higgins JV, Schulz R. Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. Am J Med Genet. 1994; 49(2): 240-243.10.1002/ajmg.13204902168116676JohnsonJAAughtonDJComstockCHvonOeyen PTHigginsJVSchulzRPrenatal diagnosis of Smith-Lemli-Opitz syndrome, type IIAm J Med Genet1994492240243Open DOISearch in Google Scholar

Rutledge JC, Friedman JM, Harrod, MJ, Currarino G, Wright CG, Pinckney L, et al. A "new" lethal multiple congenital anomaly syndrome: Joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. Am J Med Genet. 1984; 19(2): 255-64.10.1002/ajmg.1320190208RutledgeJCFriedmanJMHarrodMJCurrarinoGWrightCGPinckneyLet alA "new" lethal multiple congenital anomaly syndrome: Joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformationsAm J Med Genet198419225564Open DOISearch in Google Scholar

Patek CE, Little MH, Fleming S, Miles C, Charlieu JP, Clarke AR, et al. A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. Proc Natl Acad Sci USA. 1999; 96(6): 2931-2936.10.1073/pnas.96.6.2931PatekCELittleMHFlemingSMilesCCharlieuJPClarkeARet alA zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndromeProc Natl Acad Sci USA199996629312936Open DOISearch in Google Scholar

Berta Ρ, Morin D, Poulat F, Taviaux S, Lobaccaro JM, Sultan C, et al. Molecular analysis of the sex-determining region from the Υ chromosome in two patients with Frasier syndrome. Horm Res. 1992; 37(3): 103-106.10.1159/000182291BertaΡMorinDPoulatFTaviauxSLobaccaroJMSultanCet alMolecular analysis of the sex-determining region from the Υ chromosome in two patients with Frasier syndromeHorm Res1992373103106Open DOISearch in Google Scholar

Narahara K, Kikkawa K, Kimira S, Kimoto H, Ogata M, Kasai R, et al. Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment llpl305----pl306. Hum Genet. 1984; 66(2-3): 181-185.10.1007/BF002865976325323NaraharaKKikkawaKKimiraSKimotoHOgataMKasaiRet alRegional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment llpl305----pl306Hum Genet1984662-3181185Open DOISearch in Google Scholar

vanHeyningen V, Bickmore WA, Seawright A, Fletcher JM, Maule J, Fekete G, et al. Role for the Wilms tumor gene in genital development? ProcNatl Acad Sci USA. 1990; 87(14): 5383-5386.10.1073/pnas.87.14.5383vanHeyningenVBickmoreWASeawrightAFletcherJMMauleJFeketeGet alRole for the Wilms tumor gene in genital development?ProcNatl Acad Sci USA1990871453835386Open DOISearch in Google Scholar

Waters PD, Wallis MC, Marshall Graves JA. Mammalian sex--Origin and evolution of the Υ chromosome and SRY. Semin Cell Dev Biol. 2007; 18(3): 389-400.10.1016/j.semcdb.2007.02.007WatersPDWallisMCMarshallGraves JAMammalian sex--Origin and evolution of the Υ chromosome and SRYSemin Cell Dev Biol200718338940017400006Open DOISearch in Google Scholar

Sekido R, Lovell-Badge R. Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature. 2008; 453(7197): 930-934.10.1038/nature0694418454134SekidoRLovell-BadgeRSex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancerNature2008453719793093418454134Open DOISearch in Google Scholar

Sekido R, Bar I, Narvaez V, Penny G, Lovell-Badge R. SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors. Dev Biol. 2004; 274(2): 271-279.10.1016/j.ydbio.2004.07.01115385158SekidoRBarINarvaezVPennyGLovell-BadgeRSOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursorsDev Biol2004274227127915385158Open DOISearch in Google Scholar

Palmer SJ, Burgoyne PS. In situ analysis of fetal, pre-puberal and adult XX----XY chimaeric mouse testes: Sertoli cells are predominantly, but not exclusively, XY. Development. 1991; 112(1): 265-268.PalmerSJBurgoynePSIn situ analysis of fetal, pre-puberal and adult XX----XY chimaeric mouse testes: Sertoli cells are predominantly, but not exclusively, XYDevelopment1991112126526810.1242/dev.112.1.2651769333Search in Google Scholar

Stevanovic M, Lovell-Badge R, Collignon J, Goodfellow PN. SOX3 is an X-linked gene related to SRY. Hum Mol Genet. 1993; 2(12): 2013-2018.811136910.1093/hmg/2.12.2013StevanovicMLovell-BadgeRCollignonJGoodfellowPNSOX3 is an X-linked gene related to SRYHum Mol Genet1993212201320188111369Search in Google Scholar

Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, Rastan S, et al. A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. Development. 1996; 122(2): 509-520.8625802CollignonJSockanathanSHackerACohen-TannoudjiMNorrisDRastanSet alA comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2Development1996122250952010.1242/dev.122.2.5098625802Search in Google Scholar

Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, et al. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet. 2002; 71(6): 1450-1455.1242821210.1086/344661LaumonnierFRonceNHamelBCThomasPLespinasseJRaynaudMet alTranscription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencyAm J Hum Genet20027161450145542000412428212Search in Google Scholar

Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, et al. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet. 2005; 76(5): 833-849.1580084410.1086/430134WoodsKSCundallMTurtonJRizottiKMehtaAPalmerRet alOver- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarismAm J Hum Genet2005765833849119937215800844Search in Google Scholar

Rizzoti K, Brunelli S, Carmignac D, Thomas PQ, Robinson IC, Lovell-Badge R. SOX3 is required during the formation of the hypothalamo-pituitary axis. Nat Genet. 2004; 36(3): 247-255.10.1038/ng130914981518RizzotiKBrunelliSCarmignacDThomasPQRobinsonICLovell-BadgeRSOX3 is required during the formation of the hypothalamo-pituitary axisNat Genet200436324725514981518Open DOISearch in Google Scholar

Dee CT, Hirst CS, Shih YH, Tripathi VB, Patient RK, Scotting PJ. Sox3 regulates both neural fate and differentiation in the zebrafish ectoderm. Dev Biol. 2008; 320(1): 289-301.1857215710.1016/j.ydbio.2008.05.542DeeCTHirstCSShihYHTripathiVBPatientRKScottingPJSox3 regulates both neural fate and differentiation in the zebrafish ectodermDev Biol2008320128930118572157Search in Google Scholar

Bylund M, Andersson E, Novitch BG, Muhr J. Vertebrate neurogenesis is counteracted by Soxl-3 activity. Nat Neurosci. 2003; 6(11): 1162-1168.10.1038/nn113114517545BylundMAnderssonENovitchBGMuhrJVertebrate neurogenesis is counteracted by Soxl-3 activityNat Neurosci20036111162116814517545Open DOISearch in Google Scholar

Rizzoti K, Lovell-Badge R. SOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesis. Development. 2007; 134(19): 3437-3448.1772834210.1242/dev.007906RizzotiKLovell-BadgeRSOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesisDevelopment2007134193437344817728342Search in Google Scholar

des Portes V, Carrie A, Billuart P, Kieffer V, Bienvenu T, Vinet MC, et al. Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation. Clin Genet. 1998; 53(2): 136-141.9611075desPortes VCarrieABilluartPKiefferVBienvenuTVinetMCet alInherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardationClin Genet199853213614110.1111/j.1399-0004.1998.tb02661.x9611075Search in Google Scholar

Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, et al. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet. 1999; 23(1): 25-31.10.1038/1262310471494CarrieAJunLBienvenuTVinetMCMcDonellNCouvertPet alA new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardationNat Genet1999231253110471494Open DOISearch in Google Scholar

Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, et al. Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. J Med Genet. 2004; 41(9): 669-678.10.1136/jmg.2003.01694915342697SolomonNMRossSAMorganTBelskyJLHolFAKarnesPSet alArray comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3J Med Genet2004419669678173589815342697Open DOISearch in Google Scholar

Sutton Ε, Hughes J, White S, Sekido R, Tan J, Arboleda V, et al. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest. 2011; 121(1): 328-341.10.1172/JCI42580SuttonΕHughesJWhiteSSekidoRTanJArboledaVet alIdentification of SOX3 as an XX male sex reversal gene in mice and humansJ Clin Invest20111211328341300714121183788Open DOISearch in Google Scholar

Grinspon RP, Nevado J, Mori Alvarez Mde L, Del Rey G, Castera R, Venara M, et al. 46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy. Clin Endocrinol (Oxf). 2016; 85(4): 673-675.10.1111/cen.13126GrinsponRPNevadoJMoriAlvarez Mde LDelRey GCasteraRVenaraMet al46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boyClin Endocrinol (Oxf)201685467367527260338Open DOISearch in Google Scholar

Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, et al. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012; 91(6): 987-997.10.1016/j.ajhg.2012.10.00723159250Sanna-CherchiSKirylukKBurgessKEBodriaMSampsonMGHadleyDet alCopy-number disorders are a common cause of congenital kidney malformationsAm J Hum Genet2012916987997351659623159250Open DOISearch in Google Scholar

Kulle AE, Riepe FG, Melchior D, Hiort O, Holterhus PM. A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydro-testosterone in pediatric blood samples: Age-and sex-specific reference data. J Clin Endocrinol Metab. 2010; 95(5): 2399-2409.10.1210/jc.2009-1670KulleAERiepeFGMelchiorDHiortOHolterhusPMA novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydro-testosterone in pediatric blood samples: Age-and sex-specific reference dataJ Clin Endocrinol Metab20109552399240920200336Open DOISearch in Google Scholar

Kulle AE, Welzel M, Holterhus PM, Riepe FG. Implementation of a liquid chromatography tandem mass spectrometry assay for eight adrenal C-21 steroids and pediatric reference data. Horm Res Paediatr. 2013; 79(1): 22-31.2332848710.1159/000346406KulleAEWelzelMHolterhusPMRiepeFGImplementation of a liquid chromatography tandem mass spectrometry assay for eight adrenal C-21 steroids and pediatric reference dataHorm Res Paediatr2013791223123328487Search in Google Scholar

Kulle AE, Riepe FG, Hedderich J, Sippell WG, Schmitz J, Niermeyer L, et al. LC-MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: Implications for detecting heterozygote CYP21A2 mutation carriers. Eur J Endocrinol. 2015; 173(4): 517-524.10.1530/EJE-14-108426315375KulleAERiepeFGHedderichJSippellWGSchmitzJNiermeyerLet alLC-MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: Implications for detecting heterozygote CYP21A2 mutation carriersEur J Endocrinol20151734517524Open DOISearch in Google Scholar

Padmanabhan S, Melander O, Johnson T, Di Blasio AM, Lee WK, Gentilini D, et al. Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. PLoS Genet. 2010; 6(10): el001177.PadmanabhanSMelanderOJohnsonTDiBlasio AMLeeWKGentiliniDet alGenome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertensionPLoS Genet2010610el00117710.1371/journal.pgen.1001177Search in Google Scholar

Verbitsky M, Sanna-Cherchi S, Fasel DA, Levy B, Kiryluk K, Wuttke M, et al. Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest. 2015; 125(5): 2171-2178.2589360310.1172/JCI80877VerbitskyMSanna-CherchiSFaselDALevyBKirylukKWuttkeMet alGenomic imbalances in pediatric patients with chronic kidney diseaseJ Clin Invest2015125521712178Search in Google Scholar

Westland R, Verbitsky M, Vukojevic K, Perry BJ, Fasel DA, Zwijnenburg PJ, et al. Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. Kidney Int. 2015; 88(6): 1402-1410.10.1038/ki.2015.23926352300WestlandRVerbitskyMVukojevicKPerryBJFaselDAZwijnenburgPJet alCopy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidneyKidney Int201588614021410Open DOISearch in Google Scholar

Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, et al. Genetic drivers of kidney defects in the DiGeorge syndrome. Ν Engl J Med. 2017; 376(8): 742-754.10.1056/NEJMoa1609009Lopez-RiveraELiuYPVerbitskyMAndersonBRCaponeVPOttoEAet alGenetic drivers of kidney defects in the DiGeorge syndromeΝ Engl J Med20173768742754Open DOISearch in Google Scholar

Purcell S, Neale B, Todd-Brown Κ, Thomas L, Ferreira MA, Bender D, et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007; 81(3): 559-575.1770190110.1086/519795PurcellSNealeBTodd-BrownΚThomasLFerreiraMABenderDet alPLINK: A tool set for whole-genome association and population-based linkage analysesAm J Hum Genet2007813559575Search in Google Scholar

Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, et al. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res. 2007; 17(11): 1665-1674.1792135410.1101/gr.6861907WangKLiMHadleyDLiuRGlessnerJGrantSFet alPennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping dataGenome Res2007171116651674Search in Google Scholar

Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, et al. Multiple recurrent de novo CNVs, including duplications of the 7ql 1.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011; 70(5): 863-885.10.1016/j.neuron.2011.05.002SandersSJErcan-SencicekAGHusVLuoRMurthaMTMoreno-De-LucaDet alMultiple recurrent de novo CNVs, including duplications of the 7ql 1.23 Williams syndrome region, are strongly associated with autismNeuron2011705863885Open DOISearch in Google Scholar

Lagerstrom-Fermer M, Sundvall M, Johnsen E, Warne GL, Forrest SM, Zajac JD, et al. X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. Am J Hum Genet. 1997; 60(4): 910-916.9106538Lagerstrom-FermerMSundvallMJohnsenEWarneGLForrestSMZajacJDet alX-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26Am J Hum Genet1997604910916Search in Google Scholar

Hamel BC, Smits AP, Otten BJ, van den Helm B, Ropers HH, Mariman EC. Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings. Am J Med Genet. 1996; 64(1): 35-41.882644610.1002/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-QHamelBCSmitsAPOttenBJvanden Helm BRopersHHMarimanECFamilial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findingsAm J Med Genet19966413541Search in Google Scholar

Gucev Z, Tasic V, Plaseska-Karanfilska D, Konstantinova MK, Stamatova A, Dimishkovska M, et al. LHX4 gene alterations: Patient report and review of the literature. Pediatr Endocrinol Rev. 2016; 13(4): 749-755.27464418GucevZTasicVPlaseska-KaranfilskaDKonstantinovaMKStamatovaADimishkovskaMet alLHX4 gene alterations: Patient report and review of the literaturePediatr Endocrinol Rev2016134749755Search in Google Scholar

Mojsin M, Stevanovic M. PBX1 and MEIS1 up-regulate SOX3 gene expression by direct interaction with a consensus binding site within the basal promoter region. Biochem J. 2009; 425(1): 107-116.19799567MojsinMStevanovicMPBX1 and MEIS1 up-regulate SOX3 gene expression by direct interaction with a consensus binding site within the basal promoter regionBiochem J2009425110711610.1042/BJ20090694Search in Google Scholar

Schnabel CA, Godin RE, Cleary ML. Pbxl regulates nephrogenesis and ureteric branching in the developing kidney. Dev Biol. 2003; 254(2): 262-276.10.1016/S0012-1606(02)00038-6SchnabelCAGodinREClearyMLPbxl regulates nephrogenesis and ureteric branching in the developing kidneyDev Biol20032542262276Open DOISearch in Google Scholar

Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, Ray PF, et al. PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. J Med Genet. 2017; 54(7): 502-510.10.1136/jmedgenet-2016-10443528270404LeTanno PBretonJBidartMSatreVHarbuzRRayPFet alPBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humansJ Med Genet201754750251028270404Open DOISearch in Google Scholar

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Medicine, Basic Medical Science, other