Congenital Generalized Hypertrichosis With a Copy Number Variation on Chromosome 17q24

    April 2017 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Rikimaru Hayashi, Kazue Yoshida, Riichiro Abe, N. Hironori, Yutaka Shimomura
    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.
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