par Abramowicz, Marc 
;Albuquerque, Joao Paulo ;Zanen, André
Référence Journal of medical genetics, 39, 2, page (110-112)
Publication Publié, 2002-02
;Albuquerque, Joao Paulo ;Zanen, André Référence Journal of medical genetics, 39, 2, page (110-112)
Publication Publié, 2002-02
Article révisé par les pairs
| Résumé : | The association of congenital corneal dystrophy with teenage onset perceptive hearing loss (Harboyan syndrome) has been reported in two sibships, one with consanguineous parents, which were consistent with autosomal recessive transmission. We have observed a Moroccan sibship where four girls and one boy were affected with this rare syndrome. The parents were first cousins once removed and unaffected. Genome wide homozygosity mapping using 386 microsatellite markers linked the locus to 20p13. A maximum multipoint lod score of 4.20 was obtained at marker D20S179. The minimal critical region is 7.73 cM between markers D20S199 and D20S437. These results confirm the syndromic association of congenital corneal dystrophy and teenage onset hearing loss, and further increase the genetic heterogeneity of recessive deafness. |
