Lujan–Fryns syndrome
| Subclass of | X-linked intellectual disability  |
|---|---|
| Health specialty | psychiatry |
| Genetic association | MED12 |
Lujan–Fryns syndrome (LFS) be an X-linked genetic disorder wey dey cause mild to moderate intellectual disability den features dem describe as Marfanoid habitus, wey dey refer to a group of physical characteristics similar to those dem find insyd Marfan syndrome.[1] Dese features dey include a tall, thin stature den long, slender limbs.[1] LFS sanso associate plus psychopathology den behavioral abnormalities, wey e dey exhibit a number of malformations wey dey affect de brain den heart.[2][3][4] De disorder be inherited insyd an X-linked dominant manner, wey e be attributed to a missense mutation insyd de MED12 gene. Der be currently no treatment anaa therapy for de underlying MED12 malfunction, den e exact cause of de disorder dey remain unclear.[5]
References
[edit | edit source]- 1 2 Fryns, J. P.; Buttiens, M.; Opitz, J. M.; Reynolds, J. F. (Oct 1987). "X-linked mental retardation with marfanoid habitus". American Journal of Medical Genetics. 28 (2): 267–274. doi:10.1002/ajmg.1320280202. ISSN 0148-7299. PMID 3322000.
- ↑ Alonso, P.; Pintos, G.; Almazan, F.; Hernández, L.; Loran, E.; Menchon, J. M.; Vallejo, J. (July 2006). "Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome". Clinical Dysmorphology. 15 (3): 181–184. doi:10.1097/01.mcd.0000220610.24908.a4. ISSN 0962-8827. PMID 16760741. S2CID 7415391.
- ↑ Lerma-Carrillo, I.; Molina, J. D.; Cuevas-Duran, T.; Julve-Correcher, C.; Espejo-Saavedra, J. M.; Andrade-Rosa, C.; Lopez-Muñoz, F. (December 2006). "Psychopathology in the Lujan-Fryns syndrome: report of two patients and review". American Journal of Medical Genetics Part A. 140 (24): 2807–2811. doi:10.1002/ajmg.a.31503. ISSN 1552-4825. PMID 17036352. S2CID 22491132.
- ↑ Wittine, L. M.; Josephson, K. D.; Williams, M. S. (Oct 1999). "Aortic root dilation in apparent Lujan-Fryns syndrome". American Journal of Medical Genetics. 86 (5): 405–409. doi:10.1002/(SICI)1096-8628(19991029)86:5<405::AID-AJMG2>3.0.CO;2-1. ISSN 0148-7299. PMID 10508979.
- ↑ Buggenhout, G. V.; Fryns, J. -P. (July 2006). "Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)". Orphanet Journal of Rare Diseases (Free full text). 1 26. doi:10.1186/1750-1172-1-26. PMC 1538574. PMID 16831221.
Read further
[edit | edit source]- GeneReview/NIH/UW entry on MED12-Related Disorders
- Van Buggenhout, G. J. C. M.; Trommelen, J. C. M.; Brunner, H. G.; Hamel, B. C. J.; Fryns, J. P. (Jan 2001). "The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR)". Annales de Génétique. 44 (1): 47–55. doi:10.1016/S0003-3995(01)01038-3. ISSN 0003-3995. PMID 11334618.
External links
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