Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

Symphalangism (SYM or SYM1) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which fathe...

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Bibliographic Details
Published in:Human mutation 2002-03, Vol.19 (3), p.308-308
Main Authors: Mangino, M., Flex, E., Digilio, M.C., Giannotti, A., Dallapiccola, B.
Format: Article
Language:English
Subjects:
Amino Acid Sequence - genetics
Amino Acid Substitution - genetics
Bone Morphogenetic Proteins - antagonists & inhibitors
Bone Morphogenetic Proteins - genetics
Carrier Proteins
Chromosomes, Human, Pair 17 - genetics
Female
Finger Joint - abnormalities
Haplotypes - genetics
Humans
Italy
joint malformation
Male
Molecular Sequence Data
Mutation - genetics
NOG
Noggin
Proline - genetics
Protein Structure, Secondary
Proteins - genetics
Serine - genetics
SYM1
Symphalangism
Toe Joint - abnormalities
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Summary:Symphalangism (SYM or SYM1) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which father and son had bilateral symphalangism and detected a novel NOG mutation (P35S), originated in the father from a c.914C>T transition. A different mutation in the same codon (P35R) has been previously described. Comparison between different noggin gene hortologs shows that codon 35 is conserved. Therefore, this codon should play an important role in NOG gene function. This is the first mutation described for NOG after the initial report of NOG mutations being causative of SYM. © 2002 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.9016