Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings - a diagnostic conundrum |
Mishra, Kirtisudha
(Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College)
Singla, Shilpy (Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College) Sharma, Suvasini (Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College) Saxena, Renu (Department of Molecular Genetics, Sir Ganga Ram Hospital) Batra, Vineeta Vijay (Department of Pathology, G. B. Pant Hospital) |
1 | Ménasche G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest 2003;112:450-6. DOI |
2 | Pastural E, Ersoy F, Yalman N, Wulffraat N, Grillo E, Ozkinay F, et al. Two genes are responsible for Griscelli syndrome at the same 15q21 locus. Genomics 2000;63:299-306. DOI ScienceOn |
3 | Meeths M, Bryceson YT, Rudd E, Zheng C, Wood SM, Ramme K, et al. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. Pediatr Blood Cancer 2010;54:563-72. |
4 | Weitzman S. Approach to hemophagocytic syndromes. Hematology Am Soc Hematol Educ Program 2011;2011:178-83. DOI ScienceOn |
5 | Sheela SR, Latha M, Injody SJ. Griscelli syndrome: Rab 27a mutation. Indian Pediatr 2004;41:944-7. |
6 | Schwartz RA, Nervi SJ. Erythema nodosum: a sign of systemic disease. Am Fam Physician 2007;75:695-700. |
7 | Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr 2007;166:95-109. |
8 | Aksu G, Kutukculer N, Genel F, Vergin C, Omowaire B. Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of RAB27A mutations in humans. Am J Med Genet A 2003;116A:329-33. DOI ScienceOn |
9 | Brismar J, Harfi HA. Partial albinism with immunodeficiency: a rare syndrome with prominent posterior fossa white matter changes. AJNR Am J Neuroradiol 1992;13:387-93. |
10 | Masri A, Bakri FG, Al-Hussaini M, Al-Hadidy A, Hirzallah R, de Saint Basile G, et al. Griscelli syndrome type 2: a rare and lethal disorder. J Child Neurol 2008;23:964-7. DOI |
11 | Rajadhyax M, Neti G, Crow Y, Tyagi A. Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly. Brain Dev 2007;29:247-50. DOI ScienceOn |
12 | Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M. A syndrome associating partial albinism and immunodeficiency. Am J Med 1978;65:691-702. DOI ScienceOn |
13 | Langford GM, Molyneaux BJ. Myosin V in the brain: mutations lead to neurological defects. Brain Res Brain Res Rev 1998;28:1-8. DOI ScienceOn |
14 | Meschede IP, Santos TO, Izidoro-Toledo TC, Gurgel-Gianetti J, Espreafico EM. Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. Braz J Med Biol Res 2008;41:839-48. DOI |
15 | Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, et al. Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. Am J Hum Genet 2002;71:407-14. DOI ScienceOn |
16 | Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 2000;25:173-6. DOI ScienceOn |
17 | Hurvitz H, Gillis R, Klaus S, Klar A, Gross-Kieselstein F, Okon E. A kindred with Griscelli disease: spectrum of neurological involvement. Eur J Pediatr 1993;152:402-5. DOI |