X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation

作者：D' Hooghe Marc; Selleslag Dominik; Mortier Geert; Van Coster Rudy; Vermeersch Pieter; Billiet Johan; Bekri Soumeya

来源：European Journal of Paediatric Neurology, 2012, 16(6): 730-735.

DOI：10.1016/j.ejpn.2012.02.003

• Sideroblastic anemia
• Ataxia
• X-linked sideroblastic anemia and ataxia
• ABCB7 gene mutation
• Heme synthesis
• Iron-sulfur cluster biogenesis

X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13. The gene encodes a mitochondrial ATP-binding cassette (ABC) transporter protein involved in iron homeostasis. Until now only three families have been reported, each with a distinct missense mutation in this gene. We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene.

• 出版日期2012-11