Document Detail

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
MedLine Citation:
PMID:  16532399     Owner:  NLM     Status:  MEDLINE    
We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome). Recently, mutations in the catalytic subunit of RAB3GAP (RAB3GAP1), a key regulator of calcium-mediated hormone and neurotransmitter exocytosis, were reported in Warburg micro syndrome, a severe neurodevelopmental condition with overlapping clinical features. RAB3GAP is a heterodimeric protein that consists of a catalytic subunit and a noncatalytic subunit encoded by RAB3GAP1 and RAB3GAP2, respectively. We performed messenger RNA-expression studies of RAB3GAP1 and RAB3GAP2 orthologues in Danio rerio embryos and demonstrated that, whereas developmental expression of rab3gap1 was generalized (similar to that reported elsewhere in mice), rab3gap2 expression was restricted to the central nervous system. These findings are consistent with RAB3GAP2 having a key role in neurodevelopment and may indicate that Warburg micro and Martsolf syndromes represent a spectrum of disorders. However, we did not detect RAB3GAP2 mutations in patients with Warburg micro syndrome. These findings suggest that RAB3GAP dysregulation may result in a spectrum of phenotypes that range from Warburg micro syndrome to Martsolf syndrome.
Irene A Aligianis; Neil V Morgan; Marina Mione; Colin A Johnson; Elisabeth Rosser; Raoul C Hennekam; Gill Adams; Richard C Trembath; Daniela T Pilz; Neil Stoodley; Anthony T Moore; Steve Wilson; Eamonn R Maher
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-02-14
Journal Detail:
Title:  American journal of human genetics     Volume:  78     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2006 Apr 
Date Detail:
Created Date:  2006-03-13     Completed Date:  2006-04-25     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  702-7     Citation Subset:  IM    
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AF004828;  AI629291;  CF348222;  D31886
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MeSH Terms
Abnormalities, Multiple / genetics*
Catalytic Domain
Molecular Sequence Data
Mutation, Missense*
RNA Splicing
rab3 GTP-Binding Proteins / genetics*
Grant Support
G84/6508//Medical Research Council; //Wellcome Trust
Reg. No./Substance:
EC protein, human; EC GTP-Binding Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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