2008
DOI: 10.1590/s0100-879x2008001000002
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Abstract: Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairment and GS2 patients have severe immunological deficiencies that lead to recurrent infections and hemophagocytic syndr… Show more

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Cited by 25 publications
(31 citation statements)
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References 37 publications
(31 reference statements)
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“…GS Type 3 is caused by mutations in the gene that encodes melanophilin (Mlph), and its expression is restricted to hypopigmentation. [1,[5][6][7] MYO5A F-exon deletion has also been reported to cause a similar expression as Mlph. Rab27a, Mlph, and MyoVa are proteins involved in the movement of melanosomes.…”
Section: Case Reportmentioning
confidence: 91%
See 1 more Smart Citation
“…GS Type 3 is caused by mutations in the gene that encodes melanophilin (Mlph), and its expression is restricted to hypopigmentation. [1,[5][6][7] MYO5A F-exon deletion has also been reported to cause a similar expression as Mlph. Rab27a, Mlph, and MyoVa are proteins involved in the movement of melanosomes.…”
Section: Case Reportmentioning
confidence: 91%
“…GS3 has a good prognosis, and no treatment is required. [4,7] Elejalde disease has recently been considered to be the same as GS Type 1. [2,4,7] In addition to hypopigmentation and silvery hair, there is early onset profound neurological dysfunction.…”
Section: Case Reportmentioning
confidence: 99%
“…There have been 10 case reports of this genotype worldwide including one from India. [27141516] Ours is second case report from Indian subcontinent and eleventh worldwide. We tabulated frequency of phenotypic features of this genotype reported worldwide [Table 2].…”
Section: Discussionmentioning
confidence: 86%
“…Griscelli syndrome type 2 (GS2) is characterized by partial albinism, immunodeficiency, organomegaly and accelerated phases [2]. During the accelerated phases, hemophagocytosis and pancytopenia occur which may be accompanied by neurological deterioration [2,3]. Isolated neurological deterioration without hematological involvement has been rarely described [4][5][6].…”
Section: Introductionmentioning
confidence: 99%