LETTER TO JMG

Isolated congenital anosmia locus maps to 18p11.23-q12.2

M Ghadami^1,2,7, S Morovvati⁵, K Majidzadeh-A⁴, E Damavandi⁵, G Nishimura⁶, A Kinoshita¹, P Pasalar³, K Komatsu¹, M T Najafi⁴, N Niikawa^1,7, K Yoshiura^1,7

¹ Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
² Department of Medical Genetics
³ Department of Biochemistry, Faculty of Medicine; Tehran University of Medical Sciences
⁴ Iranian Academic Centre for Education, Culture and Research, Tehran Medical Sciences Branch
⁵ Baghiyatollah University of Medical Sciences, Tehran, Iran
⁶ Tokyo Metropolitan Kiyose Children’s Hospital, Tokyo, Japan
⁷ CREST, Japan Science and Technology Agency, Kawaguchi, Japan

Correspondence to:
Correspondence to:
M Ghadami
MD, PhD, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Rm T613, Houston Tx 77030, USA; mghadami{at}bcm.tmc.edu, or (cc) mghadami{at}yahoo.com

Received 8 October 2003

Accepted 12 December 2003

The first 150 words of the full text of this article appear below.

Isolated congenital anosmia (MIM 107200) is a very rare condition characterised by a complete smelling defect that is present from birth in otherwise normal subjects. To our knowledge, nine sporadic cases of isolated congenital anosmia have been known,^1,2 and patients reported by Lygonis³ and those by us⁴ were only familial isolated congenital anosmia. Other cases of familial congenital anosmia had some additional manifestations^5–9 or had Kallmann syndrome. The defective smelling in isolated congenital anosmia may be attributed to the absence of olfactory function—that is, either replacement of the olfactory epithelium by respiratory epithelium,² or aplasia of the olfactory bulbs, sulci, and tract.¹ Diagnosis of isolated congenital anosmia is made by one or more of history, physical examinations, a standardised smelling test, computed tomography, magnetic resonance imaging, and biopsy of the nasal mucous tissue. Patients with isolated congenital anosmia had been unable to smell as back as they could remember, and . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Pinto, J. M., Thanaviratananich, S., Hayes, M. G., Naclerio, R. M., Ober, C. (2008). A Genome-Wide Screen for Hyposmia Susceptibility Loci. Chem Senses 33: 319-329 [Abstract] [Full Text]  
• Feldmesser, E., Bercovich, D., Avidan, N., Halbertal, S., Haim, L., Gross-Isseroff, R., Goshen, S., Lancet, D. (2007). Mutations in Olfactory Signal Transduction Genes Are Not a Major Cause of Human Congenital General Anosmia. Chem Senses 32: 21-30 [Abstract] [Full Text]