This is an old revision of this page, as edited by Ghochani1374 (talk | contribs) at 21:44, 10 July 2015. The present address (URL) is a permanent link to this revision, which may differ significantly from the current revision.
Revision as of 21:44, 10 July 2015 by Ghochani1374 (talk | contribs)(diff) ← Previous revision | Latest revision (diff) | Newer revision → (diff)Myhre syndrome
Myhre syndrome is a well-defined disorder characterized by preand postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, generalized muscle hypertrophy and restricted joint mobility. Deafness that is of mixed conductive and sensory types is consistently observed in older individuals with this syndrome. Other features include developmental delay with mental retardation and/or behavioral disturbance, cardiac defects, cryptorchidism and bone anomalies. Skeletal manifestations include thickened calvarium, cone-shaped epiphyses, shortened tubular bones, hypoplastic iliac wings, broad ribs and large vertebrae with short and large pedicles.
Genetic and Myhre syndrome
Mutations in the SMAD4 gene cause Myhre syndrome. Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other tudies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.
References
References
- Burglen, L. et al. Myhre syndrome: new reports, review, and differential diagnosis. J. Med. Genet. 40, 546–551 (2003).
- Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L, et al. Novel SMAD4 mutation causing Myhre syndrome. American Journal of Medical Genetics Part A. 2014;164(7):1835-40.
- Shi, Y. & Massague, J. Mechanisms of TGF-β signaling from cell membrane to the nucleus. Cell 113, 685–700 (2003).
 | This redirect has not been added to any content categories. Please help out by adding categories to it so that it can be listed with similar redirects. (July 2015) |