"NOGGIN g58delC (Frameshift) 8"
"GDF5 (R438L) 10"
"initially described as representing SYNS1 10, but the phenotype is more suggestive of SYNS2 and has thus been categorised as an SYNS2 phenotype mutation 3,6"
"initially described as representing SYNS1 11, but the phenotype is more suggestive of SYNS2 and has thus been categorised as an SYNS2 phenotype mutation ref required"
"Additionally, some patients with features of SYNS also have craniosynostosis 13. Unfortunately, the genetic mutation(s) in these patients were not characterised."
"Mutations in specific genes have been found to be responsible for more than one syndrome type. For example, different mutations within the NOG locus (the gene encoding the noggin protein) can result in all five overlapping syndromes 1, and the same specific mutations in NOG, in different families, have resulted in the separate diagnoses of SYM1, SABTT and BDB2 1, and TCC and SYM 2. Similarly, an allele of GDF5 results in both SYNS and BDA1 in different families 3. This has led to the suggestion that these syndromes are part of a spectrum with variable penetrance 1,4."
"Mutations in specific genes have been found to be responsible for more than one syndrome type. For example, different mutations within the NOG locus (the gene encoding the noggin protein) can result in all five overlapping syndromes 1, and the same specific mutations in NOG, in different families, have resulted in the separate diagnoses of SYM1, SABTT and BDB2 1, and TCC and SYM 2. Similarly, an allele of GDF5 results in both SYNS and BDA1 in different families 3. This has led to the suggestion that these syndromes are part of a spectrum with variable penetrance 1,4."
"NOGGIN"
"NOGGIN W205C 6"
"NOGGIN W217G 7"
"NOGGIN g58delC (Frameshift) 8"
"NOGGIN C232W 9"
"Multiple synostoses syndrome (SYNS), proximal symphalangism (SYM), tarsal-carpal coalition (TCC) syndrome, stapes ankylosis with broad thumbs and toes (SABTT), and brachydactyly B2 (BDB2) are overlapping autosomal dominant conditions united by typically displaying ankylosis of the proximal interphalangeal (PIP) joints and carpal and tarsal bones."
"SYNS is distinguished from SYM by more severe joint involvement which may include the hips and vertebrae; affected individuals may have characteristic facial features and at times conductive hearing loss"
"Mutations in specific genes have been found to be responsible for more than one syndrome type. For example, different mutations within the NOG locus (the gene encoding the noggin protein) can result in all five overlapping syndromes 1, and the same specific mutations in NOG, in different families, have resulted in the separate diagnoses of SYM1, SABTT and BDB2 1, and TCC and SYM 2. Similarly, an allele of GDF5 results in both SYNS and BDA1 in different families 3. This has led to the suggestion that these syndromes are part of a spectrum with variable penetrance 1,4."
"Mutations in specific genes have been found to be responsible for more than one syndrome type. For example, different mutations within the NOG locus (the gene encoding the noggin protein) can result in all five overlapping syndromes 1, and the same specific mutations in NOG, in different families, have resulted in the separate diagnoses of SYM1, SABTT and BDB2 1, and TCC and SYM 2. Similarly, an allele of GDF5 results in both SYNS and BDA1 in different families 3. This has led to the suggestion that these syndromes are part of a spectrum with variable penetrance 1,4."
"Whilst these syndromes overlap with respect to causative genes, four SYNS subtypes have been described. Each SYNS subtype is associated with a specific genetic mutation. This may suggest that the above-described syndromes (SYNS, SYM, TCC, SABTT and BDB2) could be better classified as variable penetrance of the four subtypes of SYNS."