Curry–Jones syndrome

Curry–Jones syndrome is a rare genetic disorder which is characterized by brain, osseous, cutaneous, ocular, ans intestinal anomalies associated with congenital minor physical anomalies.

Curry–Jones syndrome
SpecialtyMedical genetics
SymptomsMulti-systemic
Usual onsetBirth
DurationLifelong
CausesSomatic mosaic genetic mutation
PreventionNone
TreatmentSymptom-centred
PrognosisGood
Frequency13 cases have been described in medical literature.
Deaths-

Signs and symptoms

Individuals with this condition usually have the following symptoms:[1][2]

Additional findings that aren't seen as often as the other mentioned symptoms include:

Causes

This condition is caused by a somatic mosaic missense mutation located in SMOH gene, in chromosome 7. These mutations are present in less than 50% of body tissues. It is suggested that the mutation occurs post-zygotically during early embryonic life.[3]

Treatment

Treatment is done on the symptoms the disorder causes.

Epidemiology

According to OMIM,[4] this condition has been described in 13 people worldwide.[3][5][6][7][8]

Discovery

It was first discovered in 1995 by Temple et al. when he described 5 unrelated children, some of which had been described previously by Cohen et al. (1988)[9] and Gorlin et al. (1990).[4] These children had defects of the skin, gastrointestinal tract, and skull associated with polysyndactyly.[5]

References
  1. "Orphanet: Síndrome de Curry Jones". www.orpha.net (in Spanish). Retrieved 2022-06-29.
  2. "Orphanet: Curry Jones syndrome". www.orpha.net. Retrieved 2022-06-29.
  3. Twigg, Stephen R. F.; Hufnagel, Robert B.; Miller, Kerry A.; Zhou, Yan; McGowan, Simon J.; Taylor, John; Craft, Jude; Taylor, Jenny C.; Santoro, Stephanie L.; Huang, Taosheng; Hopkin, Robert J. (2016-06-02). "A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome". American Journal of Human Genetics. 98 (6): 1256–1265. doi:10.1016/j.ajhg.2016.04.007. ISSN 1537-6605. PMC 4908219. PMID 27236920.
  4. "OMIM Entry - # 601707 - Curry-Jones Syndrome; CRJS". www.omim.org. Retrieved 2022-06-29.
  5. Temple, I. K.; Eccles, D. M.; Winter, R. M.; Baraitser, M.; Carr, S. B.; Shortland, D.; Jones, M. C.; Curry, C. (1995-04-01). "Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome". Clinical Dysmorphology. 4 (2): 116–129. doi:10.1097/00019605-199504000-00003. ISSN 0962-8827. PMID 7606318.
  6. Mingarelli, R.; Mokini, V.; Castriota Scanderbeg, A.; Dallapiccola, B. (1999-01-01). "Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation". Clinical Dysmorphology. 8 (1): 73–75. doi:10.1097/00019605-199901000-00015. ISSN 0962-8827. PMID 10327257.
  7. Thomas, Ellen R. A.; Wakeling, Emma L.; Goodman, Frances R.; Dickinson, John C.; Hall, Christine M.; Brady, Angela F. (2006-04-01). "Mild case of Curry-Jones syndrome". Clinical Dysmorphology. 15 (2): 115–117. doi:10.1097/01.mcd.0000194406.85052.de. ISSN 1473-5717. PMID 16531740.
  8. Grange, Dorothy K.; Clericuzio, Carol L.; Bayliss, Susan J.; Berk, David R.; Heideman, Richard L.; Higginson, Julie K.; Julian, Stephanie; Lind, Anne (2008-10-15). "Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway". American Journal of Medical Genetics. Part A. 146A (20): 2589–2597. doi:10.1002/ajmg.a.32503. ISSN 1552-4833. PMID 18798318. S2CID 12265879.
  9. Cohen, M. M. (1988). "Craniosynostosis update 1987". American Journal of Medical Genetics. Supplement. 4: 99–148. doi:10.1002/ajmg.1320310514. ISSN 1040-3787. PMID 3144990.
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