Congenital Generalized Hypertrichosis With a Copy Number Variation on Chromosome 17q24
TLDR A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
The study focused on a case of congenital generalized hypertrichosis (CGH) with gingival hyperplasia in a 6-month-old girl, identifying a de novo heterozygous deletion (CNV) of 841,141 bp on chromosome 17q24.2-24.3. This CNV resulted in significantly reduced expression of the SOX9 and ABCA5 proteins in the patient's skin and hair follicles. The findings suggested that the CNV caused a position effect impacting SOX9 expression and led to a loss of ABCA5 expression from the mutant allele, also affecting the expression from the other allele. This case provided further insight into the molecular basis of CGH associated with CNVs.
