Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly type 3 (ACS III) and Chotzen syndrome,[1] is a very rare autosomal dominant[2] congenital disorder characterized by acrocephalosyndactyly, craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). It is caused by mutations in the TWIST transcription factor (TWIST) gene.[2][3]
[edit] Characteristics
Classic features include:
- synostosis of the coronal sutures of the skull resulting in characteristic faces including ptosis, facial asymmetry and small ears
- syndactyly of the fingers, particularly of the second and third digits
- Intelligence is usually normal. Some affected individuals may have mild to moderate mental retardation.
[edit] Cause and genetics
Saethre-Chotzen syndrome has an autosomal dominant pattern of inheritance.
SCS is caused by a mutation in the TWIST gene, located on human chromosome 7p21.[2][3] Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 7 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
[edit] Epidemiology
The incidence of this rare syndrome is estimated at between 1 in 25,000–50,000 live births.
[edit] Eponym
It is named after Haakon Saethre, a prominent Norwegian neuropsychiatrist, and F. Chotzen, a German psychiatrist, who described the syndrome in 1931 and 1932, respectively.
[edit] See also
[edit] References
[edit] External links
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| (1) Basic domains |
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(2) Zinc finger
DNA-binding domains |
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| (3) Helix-turn-helix domains |
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(4) β-Scaffold factors
with minor groove contacts |
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| (0) Other transcription factors |
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| Ungrouped |
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| Transcription coregulators |
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see also transcription factors
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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