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Hypomelanosis, immunity, central nervous system: No more “and”, not the end

Hypomelanosis, immunity, central nervous system: No more “and”, not the end A clarification about the relationship between Griscelli syndrome (GS) and Elejalde syndrome (ES), as well as the genetic and molecular studies that lead to this clarification, are reported elsewhere in this issue [Bahadoran et al., 2002 ]. The main information in this report is that GS does not, as proposed previously, consist of hypomelanosis associated with immunological and central nervous system (CNS) defects, but rather with either immunological or CNS defects. This implies that GS actually consists of two separate entities, GS1 with hypomelanosis and severe CNS dysfunction (the dilute phenotype in mouse), and GS2 with hypomelanosis and lymphohistiocytotic hemophagocytosis (the ashen phenotype in mouse). The MYOVA gene is implicated in GS1 and the RAB27A gene in GS2. Both forms are very rare, but up to now only two GS1 patients were unambiguously characterized [Pastural et al., 1997 ; Pastural et al., 2000 , Sanal et al., 2000 ], both with a nonsense mutation in MYOVA , so most cases of former GS actually appear to represent GS2, with a large pattern of mutations in RAB27A [Menasché et al., 2000 ]. Following these genetic studies, it was established very recently that in melanocytes, Rab27a is a receptor at http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Hypomelanosis, immunity, central nervous system: No more “and”, not the end

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References (36)

Publisher
Wiley
Copyright
Copyright © 2003 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.a.10066
pmid
12522786
Publisher site
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Abstract

A clarification about the relationship between Griscelli syndrome (GS) and Elejalde syndrome (ES), as well as the genetic and molecular studies that lead to this clarification, are reported elsewhere in this issue [Bahadoran et al., 2002 ]. The main information in this report is that GS does not, as proposed previously, consist of hypomelanosis associated with immunological and central nervous system (CNS) defects, but rather with either immunological or CNS defects. This implies that GS actually consists of two separate entities, GS1 with hypomelanosis and severe CNS dysfunction (the dilute phenotype in mouse), and GS2 with hypomelanosis and lymphohistiocytotic hemophagocytosis (the ashen phenotype in mouse). The MYOVA gene is implicated in GS1 and the RAB27A gene in GS2. Both forms are very rare, but up to now only two GS1 patients were unambiguously characterized [Pastural et al., 1997 ; Pastural et al., 2000 , Sanal et al., 2000 ], both with a nonsense mutation in MYOVA , so most cases of former GS actually appear to represent GS2, with a large pattern of mutations in RAB27A [Menasché et al., 2000 ]. Following these genetic studies, it was established very recently that in melanocytes, Rab27a is a receptor at

Journal

American Journal of Medical Genetics Part A – Wiley

Published: Jan 1, 2003

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