Skip to main content
Hauptrubriken
CME Facharzt-Training Webinare Zeitschriften Bücher e.Medpedia Podcast
Service
Jobbörse Info & Hilfe
Fachgebiete
Anästhesiologie Allgemeinmedizin Arbeitsmedizin Augenheilkunde Chirurgie Dermatologie Gynäkologie und Geburtshilfe HNO Innere Medizin Kardiologie Neurologie Onkologie und Hämatologie Orthopädie und Unfallchirurgie Pädiatrie Pathologie Psychiatrie Radiologie Rechtsmedizin Urologie Zahnmedizin
Themen
Klimawandel und Gesundheit Neues aus dem Markt COVID-19 Praxis und Beruf Seltene Erkrankungen GOÄ & EBM Panorama
Sammlungen
Kasuistiken Algorithmen & Infografiken Blickdiagnosen Arthropedia FlapFinder (für Dermatochirurgen) Videos Kongressberichterstattung Medizin für Apothekerinnen und Apotheker Für Ärztinnen und Ärzte in Weiterbildung Für Medizinstudierende
Erweiterte Suche
Anmelden
nach oben
International Ophthalmology
Erschienen in: International Ophthalmology 3/2018

05.06.2017 | Original Paper

Fine mapping of chromosome 9 locus associated with congenital cataract

verfasst von: Haiba Kaul, Shabbir Hussain, Ghulam Mustafa, Shagufta Naz

Erschienen in: International Ophthalmology | Ausgabe 3/2018

Einloggen, um Zugang zu erhalten

Abstract

Purpose

The purpose of this study was to study the molecular basis of inherited autosomal recessive cataracts in Pakistan population and to identify the molecular defect segregating with the disease phenotype.

Methods

Families having two or more affected individuals were identified through hospital, blood samples were collected and DNA was extracted. We employed the traditional strategy of linkage analysis using M13-labeled primers to map the already known genes for autosomal recessive cataract. Statistically, the data were evaluated through LOD score.

Results

Ten families affected with autosomal receive congenital cataract were enrolled for this study. Overall, three families were linked to reported loci for autosomal recessive congenital cataract. Out of these, one family Bl05 was linked to a cataract locus at 9q13. Fine mapping of the chromosome 9 locus considerably delimited the previously reported linkage interval from 13.99 to 7.99 cM in this study.

Conclusion

Our results reduced the linkage interval of previously reported cataract locus on chromosome 9, thus considerably reducing the number of candidate genes.
Literatur
1.
Foster A, Johnson GJ (1990) Magnitude and causes of blindness in the developing world. Int Ophthalmol 14:135–140CrossRefPubMed
2.
Wang L, Lin H, Shen Y, Huang S, Gu J, Su H, Qi Y (2007) A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1. Mol Vis 13:1357–1362PubMed
3.
Butt T, Yao W, Kaul H, Xiaodong J, Gradstein L, Zhang Y, Husnain T, Riazuddin S, Hejtmancik JF, Riazuddin SA (2007) Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis 13:1635–1640PubMed
4.
Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA (2011) Hejtmancik JF (2011) Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet 88:827–838CrossRefPubMedPubMedCentral
5.
Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS (2007) Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 48:2208–2213CrossRefPubMed
6.
Heon E, Paterson AD, Fraser M, Billingsley G, Priston M, Balmer A, Schorderet DF, Verner A, Hudson TJ, Munier FL (2001) A progressive autosomal recessive cataract locus maps to chromosome 9q13–q22. Am J Hum Genet 68:772–777CrossRefPubMedPubMedCentral
7.
Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S (2010) Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis 16:511–517PubMedPubMedCentral
8.
Kaul H, Riazuddin SA, Yasmeen A, Mohsin S, Khan M, Nasir IA, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S (2010) A new locus for autosomal recessive congenital cataract identified in a Pakistani family. Mol Vis 16:240–245PubMedPubMedCentral
9.
Ponnam SP, Ramesha K, Tejwani S, Ramamurthy B, Kannabiran C (2007) Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet 44:e85CrossRefPubMedPubMedCentral
10.
Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E (2000) A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest Ophthalmol Vis Sci 41:3511–3515PubMed
11.
Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E (2002) A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am J Hum Genet 70:1363–1367CrossRefPubMedPubMedCentral
12.
Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF (2004) A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci 45:1940–1945CrossRefPubMed
13.
Ramachandran RD, Perumalsamy V, Hejtmancik JF (2007) Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 121:475–482CrossRefPubMed
14.
Riazuddin SA, Yasmeen A, Zhang Q, Yao W, Sabar MF, Ahmed Z, Riazuddin S, Hejtmancik JF (2005) A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci 46:623–626CrossRefPubMed
15.
Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF (2005) Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci 46:2100–2106CrossRefPubMed
16.
Sabir N, Riazuddin SA, Kaul H, Iqbal F, Nasir IA, Zafar AU, Qazi ZA, Butt NH, Khan SN, Husnain T, Hejtmancik JF, Riazuddin S (2010) Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p. Mol Vis 16:2911–2915PubMedPubMedCentral
17.
Sabir N, Riazuddin SA, Butt T, Iqbal F, Nasir IA, Zafar AU, Qazi ZA, Butt NH, Khan SN, Husnain T, Hejtmancik JF, Riazuddin S (2010) Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q. Mol Vis 16:2634–2638PubMedPubMedCentral
18.
Smaoui N, Beltaief O, BenHamed S, M’Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF (2004) A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 45:2716–2721CrossRefPubMed
19.
Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A (1989) A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 17:8390CrossRefPubMedPubMedCentral
20.
Schuelke M (2000) An economic method for the fluorescent labeling of PCR fragments. Nat Biotechnol 18(2):233–234CrossRefPubMed
21.
Kaul H, Suman M, Khan Z, Ullah I, Ashfaq UA, Idrees S (2016) Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2). Clin Exp Optom 99(1):73–77CrossRefPubMed
22.
Rahi JS, Dezateux C (2000) Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group. Invest Ophthalmol Vis Sci 41(8):2108–2114PubMed
23.
Irum B, Khan SY, Ali M, Kaul H, Kabir F, Rauf B, Fatima F, Nadeem R, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA, Yan Y-B (2016) Mutation in LIM2 is responsible for autosomal recessive congenital cataracts. PLOS ONE 11(11):e0162620
Metadaten
Titel
Fine mapping of chromosome 9 locus associated with congenital cataract
verfasst von
Haiba Kaul
Shabbir Hussain
Ghulam Mustafa
Shagufta Naz
Publikationsdatum
05.06.2017
Verlag
Springer Netherlands
Erschienen in
International Ophthalmology / Ausgabe 3/2018
Print ISSN: 0165-5701
Elektronische ISSN: 1573-2630
DOI
https://doi.org/10.1007/s10792-017-0581-8

Weitere Artikel der Ausgabe 3/2018

International Ophthalmology 3/2018 Zur Ausgabe

Case Report

Corneal melting in rheumatoid arthritis patients treated with a tectonic reinforcing corneolimbal graft: an interventional case series

Original Paper

Increased red cell distribution width levels in children with seasonal allergic conjunctivitis

Original Paper

Treatment of patients with neurotrophic keratitis stages 2 and 3 with plasma rich in growth factors (PRGF-Endoret) eye-drops

Original Paper

Comparative study of visual function and ocular aberrations of two different one-piece designed hydrophilic acrylic intraocular lens

Original Paper

Comparison of ReLEx SMILE and PRK in terms of visual and refractive outcomes for the correction of low myopia

Original Paper

Morphometric features on enhanced depth imaging optical coherence tomography scans in idiopathic posterior uveitis or panuveitis

Neu im Fachgebiet Augenheilkunde

Ophthalmika in der Schwangerschaft

Therapieverfahren in der Augenheilkunde CME-Artikel

Die Verwendung von Ophthalmika in der Schwangerschaft und Stillzeit stellt immer eine Off-label-Anwendung dar. Ein Einsatz von Arzneimitteln muss daher besonders sorgfältig auf sein Risiko-Nutzen-Verhältnis bewertet werden. In der vorliegenden …

Operative Therapie und Keimnachweis bei endogener Endophthalmitis

Vitrektomie Originalie

Die endogene Endophthalmitis ist eine hämatogen fortgeleitete, bakterielle oder fungale Infektion, die über choroidale oder retinale Gefäße in den Augapfel eingeschwemmt wird [ 1 – 3 ]. Von dort infiltrieren die Keime in die Netzhaut, den …

Bakterielle endogene Endophthalmitis

Vitrektomie Leitthema

Eine endogene Endophthalmitis stellt einen ophthalmologischen Notfall dar, der umgehender Diagnostik und Therapie bedarf. Es sollte mit geeigneten Methoden, wie beispielsweise dem Freiburger Endophthalmitis-Set, ein Keimnachweis erfolgen. Bei der …

So erreichen Sie eine bestmögliche Wundheilung der Kornea

Erkrankungen der Hornhaut CME-Artikel

Die bestmögliche Wundheilung der Kornea, insbesondere ohne die Ausbildung von lichtstreuenden Narben, ist oberstes Gebot, um einer dauerhaften Schädigung der Hornhaut frühzeitig entgegenzuwirken und die Funktion des Auges zu erhalten.   

Update Augenheilkunde

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen
Bildnachweise