Literature DB >> 8071978

Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).

D Narayan1, S N Krishnan, M Upender, T S Ravikumar, M J Mahoney, T F Dolan, A S Teebi, G G Haddad.   

Abstract

Primary ciliary dyskinesia syndrome is characterised by chronic sinusitis, bronchiectasis, and, in 50% of cases, dextrocardia. It is generally believed to be inherited as an autosomal recessive disorder. In this report, we describe a family consisting of a mother and her five male children, the offspring of three different fathers, all of whom have this syndrome. This argues for either an X linked or autosomal dominant pattern of inheritance. Cytogenetic and FISH (fluorescent in situ hybridisation) analyses were done on the mother and one son and were found to be normal.

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Year:  1994        PMID: 8071978      PMCID: PMC1049931          DOI: 10.1136/jmg.31.6.493

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  10 in total

1.  A human syndrome caused by immotile cilia.

Authors:  B A Afzelius
Journal:  Science       Date:  1976-07-23       Impact factor: 47.728

2.  Absence of axonemal arms in nasal mucosa cilia in Kartagener's syndrome.

Authors:  H Pedersen; N Mygind
Journal:  Nature       Date:  1976-08-05       Impact factor: 49.962

Review 3.  Microtubule motors: many new models off the assembly line.

Authors:  R D Vale
Journal:  Trends Biochem Sci       Date:  1992-08       Impact factor: 13.807

4.  SUCCESSFUL TREATMENT WITH THE MUCOLYTIC AGENT ACETYLCYSTEINE.

Authors:  P J IMPERATO; L M PALANCA; J P FERNANDEZ
Journal:  Am Rev Respir Dis       Date:  1964-07

5.  Random ciliary orientation. A cause of respiratory tract disease.

Authors:  J Rutland; R U de Iongh
Journal:  N Engl J Med       Date:  1990-12-13       Impact factor: 91.245

6.  High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones.

Authors:  P Lichter; C J Tang; K Call; G Hermanson; G A Evans; D Housman; D C Ward
Journal:  Science       Date:  1990-01-05       Impact factor: 47.728

7.  Situs inversus totalis and Kartagener's syndrome in a Japanese population.

Authors:  K Katsuhara; S Kawamoto; T Wakabayashi; J L Belsky
Journal:  Chest       Date:  1972-01       Impact factor: 9.410

8.  Genetics of Kartagener's syndrome.

Authors:  H D Rott
Journal:  Eur J Respir Dis Suppl       Date:  1983

9.  Paralyzed flagella mutants of Chlamydomonas reinhardtii. Defective for axonemal doublet microtubule arms.

Authors:  B Huang; G Piperno; D J Luck
Journal:  J Biol Chem       Date:  1979-04-25       Impact factor: 5.157

10.  Transposition of ciliary microtubules: another cause of impaired ciliary motility.

Authors:  J M Sturgess; J Chao; J A Turner
Journal:  N Engl J Med       Date:  1980-08-07       Impact factor: 91.245

  10 in total
  20 in total

Review 1.  Primary ciliary dyskinesia, an orphan disease.

Authors:  Mieke Boon; Mark Jorissen; Marijke Proesmans; Kris De Boeck
Journal:  Eur J Pediatr       Date:  2012-07-10       Impact factor: 3.183

Review 2.  Genetics and biology of primary ciliary dyskinesia.

Authors:  Amjad Horani; Thomas W Ferkol; Susan K Dutcher; Steven L Brody
Journal:  Paediatr Respir Rev       Date:  2015-09-11       Impact factor: 2.726

3.  Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.

Authors:  M Geremek; E Zietkiewicz; S R Diehl; B Z Alizadeh; C Wijmenga; M Witt
Journal:  J Med Genet       Date:  2006-01       Impact factor: 6.318

Review 4.  Gene mutations in primary ciliary dyskinesia related to otitis media.

Authors:  Manuel Mata; Lara Milian; Miguel Armengot; Carmen Carda
Journal:  Curr Allergy Asthma Rep       Date:  2014-03       Impact factor: 4.806

5.  Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

Authors:  G Pennarun; E Escudier; C Chapelin; A M Bridoux; V Cacheux; G Roger; A Clément; M Goossens; S Amselem; B Duriez
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

Review 6.  Seeing cilia: imaging modalities for ciliary motion and clinical connections.

Authors:  Jacelyn E Peabody; Ren-Jay Shei; Brent M Bermingham; Scott E Phillips; Brett Turner; Steven M Rowe; George M Solomon
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2018-03-01       Impact factor: 5.464

7.  Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

Authors:  Maimoona A Zariwala; Margaret W Leigh; Franck Ceppa; Marcus P Kennedy; Peadar G Noone; Johnny L Carson; Milan J Hazucha; Adriana Lori; Judit Horvath; Heike Olbrich; Niki T Loges; Anne-Marie Bridoux; Gaëlle Pennarun; Bénédicte Duriez; Estelle Escudier; Hannah M Mitchison; Rahul Chodhari; Eddie M K Chung; Lucy C Morgan; Robbert U de Iongh; Jonathan Rutland; Ugo Pradal; Heymut Omran; Serge Amselem; Michael R Knowles
Journal:  Am J Respir Crit Care Med       Date:  2006-07-20       Impact factor: 21.405

Review 8.  Primary ciliary dyskinesia and associated sensory ciliopathies.

Authors:  Amjad Horani; Thomas W Ferkol
Journal:  Expert Rev Respir Med       Date:  2016-03-28       Impact factor: 3.772

9.  Successful twin birth following blastocyst culture of embryos derived from the immotile ejaculated spermatozoa from a patient with primary ciliary dyskinesia: a case report.

Authors:  Richard J Kordus; Robert L Price; Jeffrey M Davis; Gail F Whitman-Elia
Journal:  J Assist Reprod Genet       Date:  2008-10-15       Impact factor: 3.412

10.  Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy.

Authors:  Brigitte Chhin; Didier Negre; Olivier Merrot; Jacqueline Pham; Yves Tourneur; Denis Ressnikoff; Martine Jaspers; Mark Jorissen; François-Loïc Cosset; Patrice Bouvagnet
Journal:  PLoS Genet       Date:  2009-03-20       Impact factor: 5.917

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