Two Genes Are Responsible for Griscelli Syndrome at the Same 15q21 Locus

“…Pastural and coworkers (15,16) showed by linkage analysis that the Griscelli syndrome maps to chromosome 15q21 and altogether found two bona fide mutations in 15 unrelated patients. In two other unrelated Griscelli patients we found no myosin Va mutations (17), leaving us with a very low mutation percentage in what was thought to be the sole candidate gene for Griscelli syndrome.…”

Section: Myosin Va the First Candidate Genementioning

confidence: 99%

“…Since the human genomic locus of RAB27A lies only 1.6 cM away from the myosin Va (MYO5A) locus on human chromosome 15q21, Ménasché et al (20) performed mutation analysis for this potential second locus in 16 Griscelli patients and were successful: three missense, one nonsense and six frameshift mutations of the RAB27A gene were detected. This second gene involved in Griscelli syndrome and hence in melanosome transport is a small GTPase first cloned in melanocytes and platelets (21,22).…”

Section: Rab27a the Second Candidate Genementioning

confidence: 99%

The Dilute Locus and Griscelli Syndrome: Gateways Towards a Better Understanding of Melanosome Transport

Westbroek

Lambert

Naeyaert

2001

Pigment Cell Research

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would present a major breakthrough in the possibilities to In this review an overview of recent advances in the understanding of melanosome movement within epidermal influence pigmentation and related disorders, of great concern melanocytes is given. Exploration of the molecular events to some patients. Moreover, melanosome transport offers a good model to study mammalian organelle trafficking and its involved in and determining the process of melanosome transkey players in general. port, as an essential part of human pigmentation, could lead to the identification of agents that augment, or down-regulate the Key words: Actin, Melanocyte, Motor proteins, Tubulin transfer of melanosomes to surrounding keratinocytes. This in melanosome transport has stagnated somewhat, and the focus was aimed at new molecular families involved in vesicle trafficking. Starting from an overview of the knowledge obtained with relation to molecular motors, the newly discovered involvement and co-operation of other molecules will be summarized in this review. Finally, this collection of findings is depicted graphically in Fig. 1.

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“…Other mutations of the same gene were reported in other cases. Recently, Pastural et al 6 presented evidence suggesting the existence of a second locus associated with Griscelli syndrome in the 15q21 region, which is located less than 7.3 cm from the MYO5A gene. Mutations in RAB27A were found in 16 patients with GS.…”

mentioning

confidence: 99%

Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation

Aricò

Zecca

Santoro

et al. 2002

Bone Marrow Transplant

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Summary:Griscelli syndrome (GS) is a rare autosomal recessive disorder, characterized by pigmentary dilution of the skin and hair and in most patients by abnormal regulation of the immune system, which results in a syndrome of macrophage hyperactivation, known as hemophagocytic lymophohistiocytosis (HLH). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment available for genetically induced HLH. Few cases of successful HSCT from a compatible donor have been reported in children with GS. We describe the first patient with GS cured with an allograft from a compatible unrelated bone marrow donor. We used a novel preparative regimen consisting of busulfan, thiotepa and fludarabine. The demonstrated curative effect of HSCT from an unrelated donor in a patient with genetically determined HLH also supports the use of a systematic diagnostic approach in these patients, in order to identify those with a worse prognosis and needing an urgent allograft in a timely manner. Bone Marrow Transplantation (2002) 29, 995-998.

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Two Genes Are Responsible for Griscelli Syndrome at the Same 15q21 Locus

Cited by 105 publications

References 27 publications

Dendritic spine actin cytoskeleton in autism spectrum disorder

Dendritic spine actin cytoskeleton in autism spectrum disorder

The Dilute Locus and Griscelli Syndrome: Gateways Towards a Better Understanding of Melanosome Transport

Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation

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