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Database: PubMed
Entry: 16134170
LinkDB: 16134170
Original site: 16134170 
PMID:
     16134170
Authors:
     Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y.
Title:
     Mutations in the holocarboxylase synthetase gene HLCS.
Journal:
     Hum Mutat. 2005 Oct;26(4):285-90. doi: 10.1002/humu.20204.
Abstract:
     Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder. 
     HLCS is an enzyme that catalyzes biotin incorporation into carboxylases and
     histones. Since the first report of the cDNA sequence, 30 mutations in the HLCS
     gene have been reported. Mutations occur throughout the entire coding region
     except exons 6 and 10. The types of mutations are one single amino acid deletion,
     five single nucleotide insertions/deletions, 22 missense mutations, and two
     nonsense mutations. The only intronic mutation identified thus far is c.1519+5G>A
     (also designated IVS10+5G>A), which causes a splice error. Several lines of
     evidence suggest that c.1519+5G>A is a founder mutation in Scandinavian patients.
     Prevalence of this mutation is about 10 times higher in the Faroe Islands than in
     the rest of the world. The mutations p.L237P and c.780delG are predominant only
     in Japanese patients. These are probably founder mutations in this population.
     Mutations p.R508W and p.V550M are identified in several ethic groups and
     accompanied with various haplotypes, suggesting that these are recurrent
     mutations. There is a good relationship between clinical biotin responsiveness
     and the residual activity of HLCS. A combination of a null mutation and a point
     mutation that shows less than a few percent of the normal activity results in
     neonatal onset. Patients who have mutant HLCS with higher residual activity
     develop symptom after the neonatal period and show a good clinical response to
     biotin therapy.

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