Publication Date:
2011-06-30
Description:
In their recent interesting paper, Xin et al. (1) described an autosomal recessive condition in 14 individuals of Old Order Amish ancestry characterized by cerebral vasculopathy and early onset stroke. The affected patients presented a heterogeneous phenotype, including variable developmental disability, irritability in infancy, chilblain lesions, glaucoma, and arthritis. Through genome-wide homozygosity mapping and candidate gene sequencing, the authors identified the homozygous mutation c.1411-2A 〉 G in SAMHD1 being associated with this entity. Additionally, they detected this mutation in 3 of 44 patients with developmental delay (phenotypes not further described). Although mutations in SAMHD1 have been found to be disease-causing...
Keywords:
Letters
Print ISSN:
0027-8424
Electronic ISSN:
1091-6490
Topics:
Biology
,
Medicine
,
Natural Sciences in General
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