TY - JOUR
T1 - P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes
AU - Hirshoren, Nir
AU - Gross, Menachem
AU - Banin, Eyal
AU - Sosna, Jacob
AU - Bargal, Ruth
AU - Raas-Rothschild, Annick
PY - 2008
Y1 - 2008
N2 - 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.
AB - 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.
KW - Brachydactyly type B
KW - Joints fusion
KW - NOG
KW - Stapes ankylosis
KW - Symphalangism
KW - Teunissen-Cremers
UR - http://www.scopus.com/inward/record.url?scp=47549110956&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2008.02.008
DO - 10.1016/j.ejmg.2008.02.008
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C2 - 18440889
AN - SCOPUS:47549110956
SN - 1769-7212
VL - 51
SP - 351
EP - 357
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 4
ER -