NDLI: Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

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Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Dale, Russell C. Gornall, Hannah Singh-Grewal, Davinder Alcausin, Melanie Rice, Gillian I. Crow, Yanick J.
Description	Country affiliation: Australia Author Affiliation: Dale RC ( Institute of Neuroscience and Muscle Research, University of Sydney, Sydney, Australia. russelld@chw.edu.au)
Abstract	We report on two siblings doubly heterozygous for null mutations in the recently identified AGS5 gene SAMHD1. The older female child showed mild intellectual disability with microcephaly. Her brother demonstrated a significant spastic paraparesis with normal intellect and head size. Both children had an unclassified chronic inflammatory skin condition with chilblains, and recurrent mouth ulcers. One child had a chronic progressive deforming arthropathy of the small and large joints, with secondary contractures. This family illustrate the remarkable phenotypic diversity accruing from mutations in genes associated with Aicardi-Goutières syndrome (AGS). The association of arthropathy with SAMHD1 mutations highlights a phenotypic overlap of AGS with familial autoinflammatory disorders such as chronic infantile neurological cutaneous and articular syndrome (CINCA). This family therefore illustrate the need to consider mutation analysis of SAMHD1 in non-specific inflammatory phenotypes of childhood. We propose that arthropathy with progressive contractures should now be considered part of the spectrum of Aicardi-Goutières syndrome because of SAMHD1 mutations.
File Format	HTM / HTML
ISSN	15524825
Issue Number	4
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Genetics Contracture Genetic Predisposition To Disease Joint Diseases Monomeric Gtp-binding Proteins Mutation Child Child, Preschool Chronic Disease Complications Dna Mutational Analysis Family Female Humans Infant Infant, Newborn Male Pedigree Pregnancy Syndrome Urticaria Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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