Wissenschaftliche Schwerpunkte

Das Universitätsinstitut für Humangenetik ist für die genetische Beratung und die dazugehörige molekular-  und zytogenetische Abklärung bei genetischen Erkrankungen, oder bei Verdacht auf eine genetische Erkrankung im Land Salzburg und benachbarter Regionen zuständig. Historisch-traditionell von Bedeutung ist dabei die Abklärung von Entwicklungsstörungen und insbesondere des Prader-Willi-Syndroms (PWS), für das es – begründet durch Doz. Dr. Rittinger – seit 1999 eine österreichweite Schwerpunktbetreuung gibt.

Hierzu kamen die Pränataldiagnostik und die Abklärung familiärer Krebserkrankungen (BRCA1/2, Lynch-Syndrom, etc.), sowie die, derzeit noch im Aufbau befindliche, Panel-/Exomdiagnostik für diverse Erkrankungen aus allen Medizinischen Fächern.

Publikationen seit dem Jahr 2009:

Interimist. Leiter Dozent Dr. med. Dieter Kotzot:

Unterberger I, Dobesberger J, Schober H, Krabichler B, Lamina C, Schatz U, Zschocke J, Luef G, Kotzot D, Fauth C. A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature. Eur J Med Genet. 2018 Oct 29. pii: S1769-7212(18)30256-8. doi: 10.1016/j.ejmg.2018.10.016. [Epub ahead of print]

Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BBA, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Gornik HL, Ganesh SK, Braverman AC, Grange DK, Milewicz DM. Loss-of-Function Mutations inYY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like VascularDisease. Am J Hum Genet. 2017 Jan 5;100(1):21-30.

Bachmann N, Crazzolara R, Bohne F, Kotzot D, Maurer K, Enklaar T, Prawitt D, Bergmann C(2017):Novel deletion in 11p15.5 imprinting center region-1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis. Pediatric Blood & Cancer, 64(3).

ZakJ, VivesV, SzumskaD, VernetA, SchneiderJE, MillerP, SleeEA,JossS, LacassieY, ChenE, EscobarLF, TuckerM, AylsworthAS, DubbsHA, CollinsThA, AndrieuxJ, Dieux-CoeslierA, HaberlandtE, Kotzot D, ScottDA,ParkerMJ, ZakariaZ, Sing ChoyY, WieczorekD, InnesAM, JunKR, ZinnerS, PrinF, LygateCA, PretoriusP, RosenfeldJA, MohunTJ, Lu X. (2016): ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome. Cell Death and Differentiation, 23(12):1973-1984.

Pichler K, Karall D, Kotzot D, Steichen-Gersdorf E, Maurer K, Rümmele-Waibel A, Mittaz-Crettol L, Wanschitz J, Bonafé L, Maurer K, Superti-Furga A, Scholl-Bürgi S(2016): Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach. 30;6:34017.

Rittinger O, Krabichler B, Kronberger G,Kotzot D (2015):Clinical and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyoytype. Eur J Med Genet58(11):603-607.

Kapelari K, Köhle J, Kotzot D, Högler W(2015):Iron supplementation associated with loss of phenotype in autosomal dominant hypophosphatemic rickets. J ClinEndocrinol Metab100(9):3388-3392.

Eggermann Th, Soellner L, Buiting K,Kotzot D (2015):Mosaicism and uniparental disomy in prenatal diagnosis.Trends in Mol Med21(2):77-87.

Spreiz A, Kotzot D (2014): Gonosomale Mosaike. Medgen 26:309-314.

Eggermann Th, Kotzot D (2014): Uniparentale Disomien und Mosaike: Bedeutung für die Diagnostik. Medgen 26:315-322.

Haberlandt E, Zotter S, Witsch-Baumgartner M, Zschocke J, Kotzot D (2014): Don´t miss patients with atypical FMR1mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1full mutation. Eur J Ped 173(9):1257-1261.

Schweigmann U, Biliczki P, Ramirez RJ, Marschall Ch, Takac I, Brandes RP, Kotzot D, Girmatsion Z, Hohnloser SH, Ehrlich JR (2014): Elevated heart rate triggers actionpotential alternans and sudden death. Translational study of a homozygous KCNH2 mutation. PLOS One 9(8):e103150.

Balci S, Zschocke J, Kotzot D, Ergün MA, A Spreiz (2014): Formation of a familial ring chromosome 18 investigated by SNP-array analysis. Am J Med Genet 164(7):1854-1856.

Fokstuen S, Kotzot D (2014): Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome. Am J Med Genet 164(6):1595-1605.

Spreiz A, Haberlandt E, Baumann M, Baumgartner Sigl S, Fauth Ch, Gautsch K, Karall D, Janetschek C, Rostasy K, Scholl-Bürgi S, Zotter S, Utermann G, Zschocke J, Kotzot D (2014): Chromosomal microaberrations in patients with epilepsy, intellectual disability, and variable congenital anomalies. Clin Genet 86(4):361-366.

Pazienza V, la Torre A, Baorda F,Alfarano M, Chetta M, Muscarella LA, Battista C, Copetti M, Kotzot D, Kapelari K, Alabdulrazzaq D, Perlman K, Sochett E, Cole DEC, Pellegrini F, Canaff L, Hendy GN, D’Agruma L, Zelante L, Carella M, Scillitani A, Guarnieri V (2014): Identification and functional characterization of three novel NoLS mutations of the CDC73 gene. Plos One 8(12)e82292.

Blassnig-Ezeh A, Bandelier C, Frühmesser A, Revencu N, Krabichler B, Beauloye V, Ravoet M, Fauth Ch, Zschocke J, Simma B, Kotzot D(2013): Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with similar microduplications in 2p16->p22.Am J Med. Genet 161(12):3176-3181.

Vandewalle J, Bauters M, van Esch H, Belet S, Verbeeck J, Fieremans N, Holvoet M, Vento J, Spreiz A, Kotzot D, Haberlandt E, Rosenfels J, Andrieux J, Delobel B, Dehouk MB, Devriendt K, Fryns JP, Marynen P, Goldstein A, Froyen G (2013): The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for nonsyndromic intellectual disability. Hum Genet 132(10):1177-1185.

Frühmesser A, Erdel M, Duba H-C, Fauth Ch, Amberger A, Utermann G, Zschocke J, Kotzot D (2013): Combined dup(7)(q22.1q32.2), inv(7)(q31.31q31.33), and ins(7;19) (q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism. Eur J Med Genet 56:383-388.

Spreiz A, Guilherme RS, Castellan C, Green A, Rittinger O, Wellek B, Utermann B, Erdel M,Fauth Ch, Haberlandt E, Kim ChA, Kulikowski LA, Meloni VA, Utermann G, Zschocke G, Melaragno MI, Kotzot D (2013): SNP-Array based characterization of nine patients with ring chromosome 18. J Ped 163(4):1174-1178.

Edgar Meusburger E, Mündlein A, ZittE, Obermayer-Pietsch B, Kotzot D, Lhotta K (2013):Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation. Clin Kidney J 6(2):211-215.

Frühmesser A, Blake J, Haberlandt E, Baying B, Raeder B Runz H, Spreiz A, Fauth Ch, Benes V, Utermann G, Zschocke J, Kotzot D (2013): Disruption of EXOC6Bin a patient with developmental delay, epilepsy, and a de novobalanced t(2;8) translocation. Eur J Hum Genet 21(10):1177-1180.

Frühmesser A, Vogt PH, Zimmer J, Witsch-Baumgartner M, Fauth Ch, Zschocke J, Pinggera GM, Kotzot D(2013): SNP Array analysis in men with idiopathic azoospermia or OAT syndrome. Fert & Sterility 100(1):81-87.

Rostasy K, Fauth Ch, Gautsch K, Laimer I, Krabichler B, Wimmer K, Frühmesser A, Zschocke J, Kotzot D, Moshir S (2013): Modification of risk for cancer as a coincidental finding in DNA array investigation. Clin Genet 83(3):284-287.

Fokstuen S, Binkert F, Munoz A, Erb N, Dürig P, Altermatt HJ, Blouin J-L, Kotzot D (2012): Contamination of Amniotic Fluid with maternal balanced t(11;22) translocation cells. Am J Med Genet 161A(5):1101-1104.

Haberlandt E, Kotzot D (2012): Interpretation of molecular results in segmental uniparental disomy. Hepat Res 42(11):1150-1153.

Frühmesser A, Haberlandt E, Judmaier W, Schinzel A, Utermann B, Erdel M, Fauth Ch, Utermann G, Zschocke J, Kotzot D (2012): Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype. Am J Med Genet 158A(9):2239-2244.

Höckner M, Spreiz A, Frühmesser A, Tzschach A, Dufke A, Rittinger O, Kalscheuer V, Erdel M, Fauth Ch, Utermann G, Zschocke J, Kotzot D (2012): Parental origin of de novocytogenetically balanced reciprocal non-Robertsonian translocations. Cytogenet and Genome Research 136(4):242-245.

Krabichler B, Rostasy K, Baumann M, Karall D, Scholl-Bürgi S, Schwarzer Ch, Gautsch K, Spreiz A, Kotzot D, Zschocke J, Fauth Ch, E Haberlandt E (2012): Novel mutation in potassium channel related gene KCTD7and progressive myoclonic epilepsy. Ann Hum Genet 76:326-331.

Haberlandt E, Spreiz A, Baumgartner Sigl S, Janetschek C, Röthlisberger B, Rostasy K, Zschocke J, Kotzot D (2011): Microdeletion 19p13.2 in an almost 5-year-old boy. Am J Med Genet A 158A:1190-1194.

Schossig A, Wolf N, Fischer Ch, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle Ch, Bartram CR, Kohlschütter A, Tönz O, Trajanoski Z, Zschocke J (2012): Mutations in the ROGDI gene cause epileptic encephalopathy and amelogenesis imperfecta (Kohlschütter-Tönz syndrome). Am J Hum Genet 90(4):701-707.

Frühmesser A, Kotzot D (2010): Chromosomal variants in Klinefelter syndrome. Sex Dev 5:109-123.

Eggermann T, Kotzot D (2010): Uniparentale Disomien –Entstehungsmechanismen und ihre Bedeutung für die Klinische Genetik. Medgen 22:439-451.

Spreiz A, Müller D, Zotter S, Albrecht S, Baumann M, Fauth Ch, Erdel M, Janecke A, Utermann G, Zschocke J, Kotzot D (2010): Phenotypic variability of a deletion and duplication 6q16.1->q21 due to a paternal balanced ins(7/6)(p15;q16.1q21). Am J Med Genet 152:2762-2767.

Grossmann V, Höckner M, Karmous-Benailly H, Liang D, Puttinger R, Quadrelli R, Röthlisberger B, Wu L, Spreiz A, Fauth Ch, Erdel M, Zschocke J, Utermann G, Kotzot D (2010): Parental origin and possible mechanisms of formation of de novocomplex chromosomal rearrangements. Clin Genet 78:548-553.

Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E (2010): Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat 31(8):E1587-1593.

Binkert F, Spreiz A, Höckner M, Miny P, von Dach Leu B, Erdel M, Utermann G, Zschocke J, Kotzot D (2010): Parental origin and mechanism of formation of a 46,X,der(X)(pter->Xq21.1::p14.1->pter/45,X karyotype in a female with mild Turner syndrome. Fert & Sterility 94(1):350.e12-350.e15.

Antonell A, Del Campo M, Magano LF, Kaufmann L, Martinez de la Iglesia M, Gallastegui F, Flores R, Schweigmann U, Fauth Ch, Kotzot D, Perez-Jurado LA (2010): Partial 7q11.23 deletions implicate GTF2I and GTF2IRD1 as the main genes responsible for the Willimas-Beuren syndrome neurocognitive profile. J Med Genet 47(5): 312-320.

Steichen-Gersdorf E, Griesmaier E, Pientka FK, Kotzot D, Kutsche K (2010): A severe form of the X-linked microphthalmia with linear skin defects syndrome (MIDAS) in a female newborn. Clin Dysmorphol 19(2): 82-84.

Kotzot D and Schwabegger AH (2009): Etiology of chest wall deformities –A genetic review for the treating physician. J Ped Surg 44:2004-2011.

Grossmann V, Müller D, Müller W, Fresser F, Erdel M, Janecke A, Zschocke J, Utermann G, Kotzot D (2009): „Essentially"pure trisomy 3q29->qter -Further delineation of the partial trisomy 3q phenotype. Am J Med Genet 149A:2522-2526.

Höckner M, Erdel M, Spreiz A, Utermann G, Kotzot D (2009): Whole genome amplification from microdissected chromosomes. Cytogenet Genome Res 125(2)98-102.

Öberärztin Dr. med. Ingrid Bader:

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan L, Nowak c, Douglas J, Swoboda K, Steeves M, Sahai I, Stumpel C, Stegmann A, Patricia Wheeler P, Marcia Willing M, Elise Fiala E, Aaina Kochhar A, Gibson W, Cohen A, Agbahovbe R, Micheil Innes A, Billie Au PY, Rankin J, Anderson I, Skinne R S, Louie R, Warren H, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae J, Price S, Schnur R, Douglas G, Wentzensen I, Zweier C, Reis A, Bialer M, Moore C, Koopmans M, Brilstra E, Monroe G, van Gassen K, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr J, Wortmann S, Jakielski K, Strand E, Kloth K, Bierhals T, Deciphering Developmental Disorders Study Deciphering Developmental Disorders Study, Roberts J, Petrovich R, Machida S, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner H, Wade P, Fisher S, and Campeau P CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat. comm. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6.

Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S,Jamali P, Mojahedi F,Taghdiri M, Papari E, Benavandi MJS, Akbari S,Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G,Varaghchi JR,Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Hossein Najmabadi H. Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2018 Jan 4. doi: 10.1038/s41380-017-0012-2. [Epub ahead of print] PubMed PMID: 29302074.

Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-HofsteeY, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC. Phenotypes and genotypes in individuals with SMC1A variants. Am J Med Genet A. 2017 May 26.

Parenti I, Teresa-Rodrigo ME, Pozojevic J, Gil SR, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach GG,  Kaiser FJ Mutations in chromatin organizers functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. J Med Genet. 2017 Mar;136(3):307-320.

Koch J, Mayr JA, Alhaddad B, Rauscher C, Kovacs-Nagy R, Bader I, Holzhacker M, Prokisch H, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. CAD Mutations and Uridine-Responsive Epileptic Encephalopathy. Brain. 2017 Feb;140(Pt2):279-286.

Kuechler A, Czeschik JC, Graf E, Beck-Woedl S, Grasshoff U, Busa T, Faivre L, Rivière JB, Bader I, Koch J, Hüffmeier U, Reis A, Hehr U, Rittinger O, Sperl W, Haack T, Wieland T,  Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Eur J Hum Genet. 2017 Feb;25(2):183-191.

Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O. MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. Eur J Med Genet. 2016 Aug;59(8):386-91. doi: 10.1016/j.ejmg.2016.06.007. PubMed PMID: 27377014.

Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato F, Graul Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D. Females with de novo aberrations in PHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):290-301.

Gregor A, Albrecht B , Bader I , Bijlsma E, Ekici AB, Engels H , Hackmann K, Horn D, Hoyer J, Klapecki J , Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C. Expanding the clinical spectrum associated with defects in CNTNAP2 und NRXN1. BMC Med Genet. 2011 Aug 9;12:106.