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Isolated congenital anosmia locus maps to 18p11.23-q12.2
  1. M Ghadami1,2,7,
  2. S Morovvati5,
  3. K Majidzadeh-A4,
  4. E Damavandi5,
  5. G Nishimura6,
  6. A Kinoshita1,
  7. P Pasalar3,
  8. K Komatsu1,
  9. M T Najafi4,
  10. N Niikawa1,7,
  11. K Yoshiura1,7
  1. 1Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
  2. 2Department of Medical Genetics
  3. 3Department of Biochemistry, Faculty of Medicine; Tehran University of Medical Sciences
  4. 4Iranian Academic Centre for Education, Culture and Research, Tehran Medical Sciences Branch
  5. 5Baghiyatollah University of Medical Sciences, Tehran, Iran
  6. 6Tokyo Metropolitan Kiyose Children’s Hospital, Tokyo, Japan
  7. 7CREST, Japan Science and Technology Agency, Kawaguchi, Japan
  1. 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;, or (cc)

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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 manifestations5–9 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 had no history of other causes of anosmia, such as significant head trauma, neoplasm involving the olfactory system, or upper respiratory infection leading to damage of the olfactory epithelium. Physical examinations are useful to exclude an association of anosmia with other symptoms and to exclude secondary anosmia. A standardised smelling test confirms complete olfactory dysfunction. Computed tomography and magnetic resonance imaging may disclose other anomalies of the central nervous system, and biopsy may show abnormal replacement of the olfactory epithelium. An autosomal dominant mode of inheritance was suggested in a family reported by Lygonis3 and two families by us.4 However, nothing has been known for the disease gene localisation. Here we report the result of a genome-wide linkage analysis of the two unrelated Iranian families.


Families and patients

Two unrelated Iranian families with isolated congenital anosmia (families 1 and 2), reported previously,4

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  • NN was supported in part by a Grant-in-Aid for Scientific Research (Category S, No 13854024) from the Ministry of Education, Sports, Culture, Science, and Technology of Japan, and by CREST from the Japan Science and Technology Agency (JST).

  • Conflicts of interest: none declared.