A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION

Area of Science:

• Genetics
• Biochemistry
• Pediatrics

Background:

• GRACILE syndrome is a severe autosomal recessive disorder.
• It is characterized by growth retardation, lactic acidosis, tubulopathy, cholestasis, and iron overload.
• BCSL1 gene mutations are implicated in GRACILE syndrome, Bjornstad syndrome, and complex III deficiency.

Observation:

• Bjornstad syndrome involves sensorineural hearing loss and specific hair shaft abnormalities.
• This case presents a neonate with GRACILE syndrome exhibiting a Bjornstad phenotype.
• The condition is attributed to a BCSL1 gene mutation.

Findings:

• The study identifies a BCSL1 gene mutation as the cause of combined GRACILE and Bjornstad syndromes.
• This genetic defect leads to severe metabolic and clinical manifestations.
• The co-occurrence of these syndromes highlights the diverse clinical spectrum of BCSL1 mutations.

Implications:

• Understanding the genetic basis of GRACILE and Bjornstad syndromes aids in diagnosis and genetic counseling.
• This case expands the known phenotype associated with BCSL1 mutations.
• Further research into complex III deficiency and BCSL1 function is warranted.