Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
January 2021
in “
Molecular genetics & genomic medicine
”
TLDR The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
The document reported the identification of two novel mutations in the BTD gene (c.98_104delinsT and c.1330G>C) causing profound biotinidase deficiency in a Chinese patient, leading to significantly reduced biotinidase activity. The patient exhibited symptoms such as epilepsy, eczema-like rash, hair loss, hypotonia, and hearing loss starting at three months of age. Early diagnosis and biotin supplementation improved most symptoms except for hearing loss. The study emphasized the importance of genetic testing and early diagnosis in managing biotinidase deficiency and expanded the known mutation spectrum of the BTD gene.
