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Mutations in BTD causing biotinidase deficiency.

J Hymes1, C M Stanley, B Wolf

  • 1Department of Human Genetics, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, Virginia 23298, USA. jhymes@hsc.vcu.edu

Human Mutation
|October 23, 2001
PubMed
Summary
This summary is machine-generated.

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Biotinidase deficiency is an inherited disorder causing neurological and skin issues. Genetic mutations in the BTD gene lead to this deficiency, with varying mutation frequencies observed in different patient groups.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Biotinidase (BTD) is crucial for cleaving biocytin, a byproduct of holocarboxylase digestion.
  • Profound BTD deficiency, an autosomal recessive disorder, can lead to severe neurological and cutaneous symptoms.
  • The human BTD gene is located on chromosome 3p25, and its cDNA and genomic DNA have been characterized.

Purpose of the Study:

  • To review and summarize the known mutations in the Biotinidase (BTD) gene.
  • To analyze the frequency and distribution of BTD mutations in different patient populations.
  • To explore potential genotype-phenotype correlations in BTD deficiency.

Main Methods:

  • Literature review of reported BTD gene mutations.
  • Analysis of mutation frequencies in symptomatic patients versus those identified through newborn screening.

Related Experiment Videos

  • Examination of mutation data from diverse ethnic groups.

    • Main Results:

    • 61 mutations in BTD exons and one intronic mutation causing profound deficiency have been identified.
    • Specific mutations (98-104del7ins3, R538C) are prevalent in symptomatic patients.
    • Other mutations (A755G, Q456H, 511 G>A; 1330G>C) are common in US newborn screening cases.
    • Partial BTD deficiency is often linked to the 1330G>C mutation (D444H).
    • Preliminary findings suggest a lack of clear genotype-phenotype correlation, despite a prevalence of mutations yielding truncated BTD protein.

    Conclusions:

    • Numerous mutations in the BTD gene cause profound and partial deficiency.
    • Mutation frequencies differ between symptomatic individuals and those detected via newborn screening.
    • Further research is needed to establish definitive genotype-phenotype correlations in Biotinidase deficiency.