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Bolz lab
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Bolz lab

Principal investigator

Prof. Dr. med. Hanno J. Bolz

    APL-Professor of the Institute of Human Genetics
    Kerpener Str. 34
    50931 Cologne, Germany
    Fax: +49 221 478-86812
      Deputy Medical Director, Bioscientia Center for Human Genetics
      Ingelheim, Germany.
      Tel.: +49 6132 781-206

       

      Research focus

      Identification and characterization of new genes for monogenic diseases, mainly based on genome-wide linkage analysis and next-generation sequencing, in particular whole-exome sequencing. We are particularly interested in sensory disorders (hearing loss, eye diseases such as retinal degeneration, deafblindness) and malformation syndromes, e.g. Joubert syndrome. Many of these disorders belong to the so-called ciliopathies.

       

      Publications of the last five years

      2018

      Bolz HJ.
      Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al.
      Eur J Hum Genet. 2018 Jul;26(7):930. doi: 10.1038/s41431-018-0162-y. Epub 2018 May 25. No abstract available.

      PubMed PMID: 29795473

      Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P.
      Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
      Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0.

      PubMed PMID: 29555955

      Bolz HJ.
      [Despite Challenges and Pitfalls: How Ophthalmology Benefits from the Use of Next-Generation Sequencing].
      Klin Monbl Augenheilkd. 2018 Mar;235(3):258-263. doi: 10.1055/s-0043-122076. Epub 2018 Feb 1. German.

      PubMed PMID: 29390234

      Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nürnberg G, Toliat M, Nürnberg P, Mürbe D, Bolz HJ.
      A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
      Genet Med. 2018 Jun;20(6):614-621. doi: 10.1038/gim.2017.155. Epub 2017 Oct 12.

      PubMed PMID: 29309402

      2017

      Khan AO, Becirovic E, Betz C, Neuhaus C, Altmüller J, Maria Riedmayr L, Motameny S, Nürnberg G, Nürnberg P, Bolz HJ.
      A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
      Sci Rep. 2017;3;7(1):1411.

      PubMed PMID: 28469144

      Khan AO, Lenzner S, Bolz HJ.
      A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy.
      Ophthalmic Genet. 2017. 38(4):380-382.

      PubMed PMID: 27668459

      Khan AO, Budde BS, Nürnberg P, Kawalia A, Lenzner S, Bolz HJ.
      Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
      Clin Genet. 2017

      PubMed PMID: 28369829

      Neuhaus C, Lang-Roth R, Zimmermann U, Heller R, Eisenberger T, Weikert M, Markus S, Knipper M, Bolz HJ.
      Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
      Clin Genet. 2017 Jun;91(6):892-901

      PubMed PMID: 27808407

      Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P, Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ.
      Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
      Mol Genet Genomic Med. 2017;5(5):531-552.

      PubMed PMID: 28944237

      Zaki M, Thoenes M, Kawalia A, Nürnberg P, Kaiser R, Heller R, Bolz HJ.
      Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.
      Front Genet. 2017 Sep 22;8:130

      PubMed PMID: 29018476

      2016

      Bolz HJ.
      Hereditary Hearing Loss and Its Syndromes Third Edition.
      Eur J Hum Genet. 2016;24(11):1650.

      PubMed PMID: 27740631

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

      PubMed PMID: 27377014

      Khan AO, Lenzner S, Bolz HJ
      A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy.
      Ophthalmic Genet. 2016 Sep 26:1-3

      PubMed PMID: 27668459

      Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ.
      PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
      Hum Mutat. 2016;37(2):170-4.

      PubMed PMID: 26593283

      Khan AO, Al Rashaed S, Neuhaus C, Bergmann C, Bolz HJ.
      Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.
      Br J Ophthalmol. 2016;100(2):209-15.

      PubMed PMID: 26061163

      Khan AO, Bolz HJ.
      Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).
      Ophthalmic Genet. 2016 Sep;37(3):301-6

      PubMed PMID: 26885695

      Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.
      Khan AO, Tamimi M, Lenzner S, Bolz HJ.
      Clin Genet. 2016

      PubMed PMID: 26785811

      Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C.
      C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
      Ophthalmic Genet. 2016 Feb 8:1-4. [Epub ahead of print]

      PubMed PMID: 26854863

      2015

      Stephen LA, Tawamie H, Davis GM, Tebbe L, Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L1, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra R, Davey MG, Bolz HJ TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
      Elife. 2015 Sep 19;4

      PubMed PMID: 26386247

      Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
      Hum Mol Genet. 2015;24(9):2594-603.

      PubMed PMID: 25616960

      Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ.
      C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
      Br J Ophthalmol. 2015 Dec;99(12):1725-31

      PubMed PMID: 26294103

      Bifari IN, Elkhamary SM, Bolz HJ, Khan AO.
      The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
      Br J Ophthalmol. 2015.

      PubMed PMID: 26359340

      Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ.
      C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
      Br J Ophthalmol. 2015:99(12):1725-31.

      PubMed PMID: 26294103

      Khan AO, Bifari IN, Bolz HJ.
      Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome.
      Ophthalmology. 2015; S0161-6420(15)00183-9.

      PubMed PMID: 25864795

      Khan AO, Al Rashaed S, Neuhaus C, Bergmann C, Bolz HJ.
      Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.
      Br J Ophthalmol. 2015.

      PubMed PMID: 26061163

      Heller R, Bolz HJ.
      The challenge of defining pathogenicity: the example of AHI1.
      Genet Med. 2015;17(6):508.

      PubMed PMID: 26035799

      Gliem M, Müller PL, Mangold E, Holz FG, Bolz HJ, Stöhr H, Weber BH, CharbelIssa P.
      Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
      Invest Ophthalmol Vis Sci. 2015;56(4):2664-76.

      PubMed PMID: 25766588

      Gliem M, Müller PL, Mangold E, Bolz HJ, Stöhr H, Weber BH, Holz FG, CharbelIssa P.
      Reticular Pseudodrusen in Sorsby Fundus Dystrophy.
      Ophthalmology. 2015;122(8):1555-62.

      PubMed PMID: 26077580

      Khan AO, BergmannC, Neuhaus C, Bolz HJ.
      A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations.
      Ophthalmic Genet. 2015;36(1):79-84.

      PubMed PMID: 25475713

      Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, BolzHJ.
      Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
      Hum Mol Genet. 2015.

      PubMed PMID: 25616960

      Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis ;A, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ.
      OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (dFNA67).
      Orphanet J of Rare Diseases. 2015 Feb 10;10:15

      PubMed PMID: 25759012

      Khan AO1, Bolz HJ
      Pediatric Cone-rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations.

      Ophthalmic Genet. 2015;36(4):349-52
      PubMed PMID: 24547909

      Khan AO, Bergmann C, Eisenberger T, Bolz HJ.
      A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
      Br J Ophthalmol. 2015 Apr;99(4):488-92

      PubMed PMID: 25342276

      2014

      Anjum S, Azhar A, Tariq M, Baig SM, Bolz HJ, Qayyum M, Navi SMS, Raja GK.
      GJB2 Gene Mutations Causing Hearing Loss in Consanguineous Pakistani Families.

      Pak J Soc. Sci. 2014;12(3):126-31.

      Linder B, Hirmer A, Gal A, Rüther K, Bolz HJ, Winkler C, Laggerbauer B, Fischer U.
      Identification of a PRPF4 loss-of-function  variant that abrogates U4/U6.U5 Tri-snRNP integration and is associated with retinitis pigmentosa.
      PLoS One. 2014 Nov 10; 9(11).

      PubMed PMID: 25383878

      Khan AO, Bolz HJ, Bergmann C.
      Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.
      J AAPOS. 2014;18(2):203-5.

      PubMed PMID: 24698627

      Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ.
      Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
      Br J Ophthalmol. 2014 Dec;98(12):1724-8

      PubMed PMID: 24997176

      Khan AO, Nagl S, Bergmann C, Bolz HJ.
      Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus").
      J Pediatr Ophthalmol Strabismus. 2014 Jul 16;51 Online:e51-4

      PubMed PMID: 25032695

      Khan AO, Bolz HJ, Bergmann C.
      Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.
      J AAPOS. 2014;18(2):134-9.

      PubMed PMID: 24698609

      Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Gobel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmuller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.
      Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy.
      Hum Mutat 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11.

      Pubmed PMID: 25044745

      Eisenberger T, Di Donato N, Baig SM, Neuhaus C, Beyer A, Decker E, Murbe D, Decker C, Bergmann C, Bolz HJ.
      Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
      Hum Mutat 2014;35(5):565-70.

      Pubmed PMID: 24616153

      Abdel-Salam G, Thoenes M, Afifi HH, Korber F, Swan D, Bolz HJ.
      The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
      Orphanet J Rare Dis 2014;9(1):12.

      Pubmed PMID: 24456803

      Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zühlke C, Ebermann I, Nürnberg G, Nürnberg P, Bolz HJ.
      Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
      Eur J Hum Genet 2014;22(2):286-8.

      Pubmed PMID: 23838597

      Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U, Amann KU, Krüger-Stollfuß I, Bolz HJ, Häffner K, Pohl M, Bergmann C.
      Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
      Pediatr Nephrol. 2014 Aug;29(8):1451-6

      PubMed PMID:24504730

      2013

      Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Borger D, Bohring A, Schreml J, Kortge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ.
      Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
      PLoS One 2013;8(11):e78496.

      Pubmed PMID: 24265693

      Galvez-Ruiz A, Neuhaus C, Bergmann C, Bolz H.
      First Cases of Dominant Optic Atrophy in Saudi Arabia: Report of Two Novel OPA1 Mutations.
      J Neuroophthalmol. 2013 Dec;33(4):349-53. doi: 10.1097/WNO.0b013e31829ffb9a.
      PubMed PMID: 24051421

      Västinsalo H, Jalkanen R, Bergmann C, Neuhaus C, Kleemola L, Jauhola L, Bolz HJ, Sankila EM.
      Extended mutation spectrum of Usher syndrome in Finland.
      Acta Ophthalmol. 2013 Jun;91(4):325-34. doi: 10.1111/j.1755-3768.2012.02397.x. Epub 2012 Jun 8.
      PubMed PMID: 22681893

      2012

      Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ.
      Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
      Orphanet J Rare Dis 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59.

      Pubmed PMID: 22938382

      2011

      Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ.
      Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
      J Clin Invest 2011;121(7):2662-7.

      Pubmed PMID: 21633164

      Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nürnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nürnberg P, Striessnig J, Bolz HJ.
      Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
      Nat Neurosci 2011;14(1):77-84.

      Pubmed PMID: 21131953