P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.
We report on a new family with Teunissen-Cremers syndrome. The proband presented with congenital conductive hearing loss due to stapes ankylosis and incus short process fixation with skeletal anomalies including symphalangism, broad thumbs and broad first toes, syndactyly, brachydactyly, contractures of the elbows and knees, hyperopia and lens opacities. This constellation of symptoms is compatible with the diagnosis of one of the joint-fusion syndromes namely the Teunissen-Cremers syndrome (TCS), which was first reported in 1990. Mutations in the NOG gene which encodes the noggin protein, a bone morphogenetic protein antagonist, have been identified in TCS as well as in four other autosomal dominant disorders including proximal symphalangism (SYM1), multiple synostosis (SYNS1), Tarsal-Carpal coalition syndrome and brachydactyly type B (BDB). Interestingly, we found that the mutation P35S described in this family has already been reported in patients affected with SYM1 as well as with BDB syndromes.
Hirshoren
Nir
N
Department of Otolaryngology/Head and Neck Surgery, Hadassah Hebrew University Medical Center, 91120 Jerusalem, Israel.
Gross
Menachem
M
Banin
Eyal
E
Sosna
Jacob
J
Bargal
Ruth
R
Raas-Rothschild
Annick
A
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D000818:Animals; D000844:Ankylosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006314:Hearing Loss, Conductive / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D011392:Proline / Q000235:genetics*; D013199:Stapes / Q000002:abnormalities; D013577:Syndrome; D000099176:Noggin Protein
D002352:Carrier Proteins; D011392:Proline; D000099176:Noggin Protein