Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.

ABSTRACT:

Background

Biotinidase deficiency (OMIM 253260) is an autosomal recessively inherited disorder affecting about 1/60,000 people worldwide. The absence or deficiency of biotinidase impairs free biotin recycling and affects biotin-dependent carboxylase functions.

Methods

A Chinese patient with spontaneous recurrent epilepsy, an eczema-like rash, hair loss, hypotonia, and hearing loss began at three months of age. Her biotinidase activity was 1.0 nmol/ml/min, 9.5% of the mean control activity, which confirmed profound biotinidase deficiency.

Results

Compound heterozygous for c.250-1G > C and c.878dupT variants in the BTD gene were identified in this patient. These two variants were novel and absent in the population matched controls and any databases.

Conclusions

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SUBMITTER: Geng J 

PROVIDER: S-EPMC8077094 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature