Forschung

Direkt zum Inhalt | Direkt zur Navigation

Benutzerspezifische Werkzeuge

Sektionen
AG Bolz (Assoziierte Arbeitsgruppe)
Sie sind hier: Startseite / Forschung / AG Bolz (Assoziierte Arbeitsgruppe)

AG Bolz (Assoziierte Arbeitsgruppe)

 

Leiter

Prof. Dr. med. Hanno J. Bolz

APL-Professor des Instituts für Humangenetik
Kerpener Str. 34
50931 Köln

Telefax: +49 221 478-86812

Stellvertretender Ärztlicher Leiter des Bioscientia Zentrums für Humangenetik, Ingelheim.

Telefon: +49 6132 781-206

 

Mitarbeiter

Ein großer Teil der Projekte wird in enger Kooperation mit Dr. Raoul Heller, Leiter der

Genetischen Beratungsstelle am Institut, durchgeführt.

 

Forschungsschwerpunkte und -projekte

Identifizierung und Charakterisierung neuer Krankheitsgene für monogene Erkrankungen.  Dabei werden Verfahren wie genomweite Kopplungsanalysen ebenso eingesetzt wie next-generation sequencing, insbesondere in Form von Exom-Sequenzierungen. Das Interesse gilt vor allem sensorischen Erkrankungen (Hörstörungen, Netzhautdegenerationen, Taubblindheit) und Fehlbildungssyndromen wie dem Joubert-Syndrom. Ein großer Teil dieser Erkrankungen ist pathogenetisch den sogenannten Ziliopathien zuzurechnen.

 

Publikationen der letzten fünf Jahre

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. 2016.

PubMed PMID: 27668459

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

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