A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir.
Rama Sharma, Anuj Bhatti, Darshpreet Singh et al.
✦ AI-curated · Sources linked
Case in brief
A 4-month-old boy from Jammu and Kashmir, born to consanguineous parents, presented with cutaneous symptoms, alopecia, developmental delay, hypotonia, and respiratory issues. Biochemical tests revealed profound biotinidase deficiency. Genetic analysis identified a homozygous 7-bp deletion and 3-bp insertion in the BTD gene, leading to a nonfunctional enzyme. The condition was managed through genetic counseling and monitoring.
What made this case unusual
The case highlights a specific recurrent mutation (98-104del7ins3) in the BTD gene, which is significant for its potential use as a biomarker in screening for biotinidase deficiency.
Diagnostic / clinical pearl
Clinicians should consider biotinidase deficiency in infants presenting with developmental delays and cutaneous manifestations, especially in the context of consanguinity.
Why it matters
Understanding the genetic basis of biotinidase deficiency can aid in early diagnosis and management, potentially improving outcomes for affected individuals.