Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.
作者： Russell C. Dale , Hannah Gornall , Davinder Singh-Grewal , Melanie Alcausin , Gillian I. Rice
DOI: 10.1002/AJMG.A.33359
关键词:
摘要: 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 normal intellect and head size. Both children had an unclassified chronic inflammatory skin condition chilblains, recurrent mouth ulcers. One progressive deforming arthropathy of small large joints, secondary contractures. This family illustrate remarkable phenotypic diversity accruing from genes associated Aicardi-Gouti�res syndrome (AGS). association SAMHD1 highlights overlap AGS familial autoinflammatory disorders such as infantile neurological cutaneous articular (CINCA). therefore need to consider mutation analysis non-specific phenotypes childhood. propose that contractures should now be considered part spectrum because mutations.
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