Work

P398: An unusual cause of hexokinase 1 deficiency

Year: 2025

Type: article

Abstract: a reciprocal translocation outside of the previously reported regulatory region.This case also highlights the importance of phenotyping and the value of a karyotype during a time in which exome sequencing (ES) is commonly recommended.Case Presentation: A two-week-old female presented due to Pierre Robin sequence (PRS) with cleft palate and failed newborn hearing screen.Physical exam was significant for relative macrocephaly.Trio exome sequencing was initiated.While pending, patient underwent imaging during an admission for respiratory failure at five months of age, and hypoplastic scapula and thoracic vertebral pedicles were identified.Additional features at that time included mild bowing of lower extremities, bilateral mild talipes equinovarus, and midface hypoplasia, all consistent with a diagnosis of CD.Diagnostic Workup: Exome sequencing reported a hemizygous variant of uncertain significance in FANCB; mother was heterozygous and father was negative.Due to concern for CD and the presence of Y chromosome material, further workup included karyotype and SNV microarray.She was identified to have a balanced translocation between chromosomes 5 and 17 (t(5;17)(q22;q23.1))with a complete XY sex chromosome complement and no other copy number variants.While this chromosome 17 breakpoint is outside of the previously reported SOX9 regulatory region, this patient's features are consistent with a diagnosis of CD with XY sex reversal.DEB studies were completed and normal.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2025.103265