[3120+1kbdel8.6kb]+[p.N1303K] GENOTYPE IN AN EMIRATI CYSTIC FIBROSIS PATIENT: INDICATION OF A FOUNDER MUTATION IN PALESTINIAN ARABS

Authors

  • Danish Saleheen
  • Philippe M. Frossard
  • Emmanuelle Girodon

Abstract

Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disorder in Caucasianpopulation. The disease was initially considered to be rare in Middle Eastern countries. 95% of CFin Emirati families is due to two mutations only – p.S549R(T>G) and p.F508del. We report herethe case of a patient referred to CF and Respiratory Clinic at Tawam Hospital for cystic fibrosistransmembrane regulator (CFTR) gene screening to ascertain the diagnosis of CF, who was foundto carry a unique genotype, signifying the importance of retrieving ancestral histories of patientswith monogenic disordersKeywords: Cystic Fibrosis, autosomal recessive disorder, Genotype

References

Cutting G.R. Cystic fibrosis. In: Rimon DL, Connor

JM, Pyeritz RE, Korf BR. Principles and Practice of

Medical Genetics. 4th ed. Harcourt publishers, London

: 1561-1606.

Ellsworth RE, Jamison DC, Touchman JW, Chissoe

SL, Braden Maduro VV, Bouffard GG, et.al.

Comparative genomic sequence analysis of the human

and mouse cystic fibrosis transmembrane conductance

regulator genes. Proc. Natl. Acad. Sci. U S A. 2000;

(3):1172-7.

The Cystic Fibrosis Genetic Analysis Consortium.

Cystic Fibrosis Mutation Data Base.

http://www.genet.sickkids.on.ca/cftr/ (accessed Oct. 08,

Dawson KP and Frossard PM: Cystic fibrosis in the

United Arab Emirates: an under-recognised condition?

Trop. Doct., 1995; 25:110-111.

Frossard PM. Girodon E, Dawson KP, Ghanem N,

Plassa F, Lestringant GG, Goossens M. Identification of

cystic fibrosis mutations in the United Arab Emirates.

Hum Mutat, 1997; 1:412-413

Bobadilla JL, Macek M, Fine JP and Farrell PM. Cystic

Firbosis: A worldwide analysis of CFTR mutationscorrelation with incidence data and application to

screening. Hum Mutat 2002;19:575-606

Frossard PM, Hertecant J, Bossaert Y, Dawson KP.

Genotype-phenotype correlations in cystic fibrosis:

clinical severity of mutation S549R (T-->G). Eur

Respir J. 1999;13(1):100-2.

Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J,

Costes B, et.al. Molecular characterization of cystic

fibrosis; 16 novel mutaions identified by analysis of the

whole cystic fibrosis conductance transmembrane

regulator (CFTR) coding regions and splice site

junctions. Genomics 1992 13:770-776.

Costes B, Fanen P, Goossens M, Ghanem N. A rapid,

efficient and sensitive assay for simultaneous analysis

J Ayub Med Coll Abbottabad 2006;18(3)

of multiple cystic fibrosis mutations. Hum Mut. 1993;

: 185-191.

Lerer I, Laufer-Cahana A, Rivlin JR, Augarten A,

Abeliovich D. A large deletion mutation in the CFTR

gene (3120+1Kbdel8.6Kb): a founder mutation in the

Palestinian Arab. Hum Mutat. 1999; 13:337 (online:

Mutation in brief #231)

Laufer-Cahana A, Lerer I, Sagi M, RachmilewitzMinei, T, Zamir C, Rivlin JR et.al. Cystic fibrosis

mutations in Israeli arab patients. Hum Mutat 1999

(online: Mutation in brief #277)

Osborne L, Knight R, Santis G, Hodson M. A mutation

in the second nucleotide binding fold of the cystic

fibrosis gene. Am J Hum Genet. 1991 Mar;48(3):608-

Osborne L, Santis G, Schwarz M, Klinger K, Dork T,

McIntosh I, et al. Incidence and expression of the

N1303K mutation of the cystic fibrosis (CFTR) gene.

Hum Genet. 1992 Aug;89(6):653-8.

Correlation between genotype and phenotype in

patients with cystic fibrosis. The Cystic Fibrosis

Genotype-Phenotype Consortium. N Engl J Med. 1993

Oct 28; 329(18):1308-13.

Issue

Vol. 18 No. 3 (2006): JOURNAL OF AYUB MEDICAL COLLEGE, ABBOTTABAD

Section

CASE REPORT

License

Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License  CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.

USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.

AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.