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Xeroderma pigmentosum A mutations result in mild skin symptoms

Xeroderma pigmentosum A mutations result in mild skin symptoms

 
 

A report on 4 middle-aged (30-45 years) Japanese patients with xeroderma pigmentosum A (XPA) exhibiting mild skin symptoms was published. These patients had a heterozygous G →C transversion at the splice acceptor site of XPA intron 3. The minimal cutaneous symptoms in these patients may be due to a higher residual level of XPA protein activity and may be more closely related to neurological rather than dermal impairment. Two of the four patients had mental retardation and abnormal neurological reflexes, whereas two had mental retardation and minimally abnormal reflexes (Takahashi, Y. et al. J Invest Dermatol 2010, 130: 2481).

 
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