The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.
We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation in the NOG gene on chromosome 17q22 was identified in the patients. The variable expression and progressive nature of the syndrome is well illustrated by this family. The role of Noggin as the causative factor of symphalangism is discussed.
van den Ende
J J
JJ
Departments of Medical Genetics Oto-rhino-laryngology Radiology, University Hospital Antwerp Departments of Radiology Pediatrics, St. Lucas Hospital, Assebroek-Brugge, Belgium.
Mattelaer
P
P
Declau
F
F
Vanhoenacker
F
F
Claes
J
J
Van Hul
E
E
Baten
E
E
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001530:Belgium; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D034381:Hearing Loss / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D010375:Pedigree; D013577:Syndrome; D000099176:Noggin Protein
D002352:Carrier Proteins; D018389:Codon, Nonsense; D000099176:Noggin Protein