Griscelli Syndrome

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Xu, C. Griscelli Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4062 (accessed on 22 September 2026).

Xu C. Griscelli Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4062. Accessed September 22, 2026.

Xu, Camila. "Griscelli Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4062 (accessed September 22, 2026).

Xu, C. (2020, December 23). Griscelli Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4062

Xu, Camila. "Griscelli Syndrome." Encyclopedia. Web. 23 December, 2020.

Griscelli Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/griscelli-syndrome

Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy.

genetic conditions

References

Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H. Evidence that Griscelli syndromewith neurological involvement is caused by mutations in RAB27A, not MYO5A. Am JHum Genet. 2002 Aug;71(2):407-14.2002 Oct;71(4):1007.
Bizario JC, Feldmann J, Castro FA, Ménasché G, Jacob CM, Cristofani L, CasellaEB, Voltarelli JC, de Saint-Basile G, Espreafico EM. Griscelli syndrome:characterization of a new mutation and rescue of T-cytotoxic activity byretroviral transfer of RAB27A gene. J Clin Immunol. 2004 Jul;24(4):397-410.
Cağdaş D, Ozgür TT, Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O. Griscelli syndrome types 1 and 3: analysis of four new cases andlong-term evaluation of previously diagnosed patients. Eur J Pediatr. 2012Oct;171(10):1527-31.
Ménasché G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, FischerA, de Saint Basile G. Griscelli syndrome restricted to hypopigmentation resultsfrom a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest.2003 Aug;112(3):450-6. Erratum in: J Clin Invest. 2005 Apr;115(4):1100.
Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N,Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A causeGriscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000Jun;25(2):173-6.
Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N,Seger R, Griscelli C, Fischer A, de Saint Basile G. Griscelli disease maps tochromosome 15q21 and is associated with mutations in the myosin-Va gene. NatGenet. 1997 Jul;16(3):289-92. Erratum in: Nat Genet 1999 Nov;23(3):373.
Van Gele M, Dynoodt P, Lambert J. Griscelli syndrome: a model system to study vesicular trafficking. Pigment Cell Melanoma Res. 2009 Jun;22(3):268-82. doi:10.1111/j.1755-148X.2009.00558.x.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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