An Updated and Upgraded L1CAM Mutation Database

作者：Vos Yvonne J^*; Hofstra Robert M W

来源：Human Mutation, 2010, 31(1): E1102-E1109.

DOI：10.1002/humu.21172

• L1CAM
• Mutation database
• L1 syndrome
• X-linked Hydrocephalus

The L1 syndrome is an X-linked recessive disease caused by mutations in the L1CAM gene. To date more than 200 different mutations have been reported, scattered over the entire gene, about 35% being missense mutations. Although it is tempting to consider these missense mutations as being disease-causing, one should be careful in drawing any firm conclusions, unless there is additional supporting information. This is in contrast to truncating mutations, which are always considered to be disease-causing, unless they involve truncations close to the gene stop codon. In order to allow conclusions to be drawn on the disease-causing nature of L1CAM (missense) mutations, we have updated and upgraded our LICAM mutation database with more pathogenicity data and clinical information collected from the literature or generated by our own research. As a result, the renewed database offers condensed scientific information, allowing conclusions to be drawn on the pathogenicity and severity of LICAM mutations based on multiple factors. The L1CAM Mutation Database is at: www.l1cammutationdatabase.info.

• 出版日期2010-1