FRAXE AFF2

1-4/100,000 males^#; 1/50-100,000 males, more than 50 families^#. Found in populations around the globe, including in the UK, US, Canada, Taiwan, Germany, Greece, Cyprus, Spain, and Finland^#.

Age of Onset Details

Typical: 2-10^#. Range: 1-10; developmental delays without physical features can make onset difficult to detect until schooling^#.

Locus

hg19

chrX:147582125-147582273

hg38

chrX:148500605-148500753

t2t

chrX:146765191-146765342

Details

Allele ranges (benign:4-39; pathogenic: >200) inferred from The Human Gene Mutation Database^#. Intermediate alleles correspond to a premutation^#. Non-canonical motifs include: CGG/CCT/GTG/CAG/CTG3^#,#.

Mechanism

LoF

Loss of function via transcriptional silencing^#,#.

Gene Strand

Alleles

Ref. Motif

GCC

Pathogenic (ref.)

GCC

Pathogenic (gene)

CCG