Table 4 Estimated proportion of homozygotes of pathogenic variants for four bone dysplasias.

From: Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals

Four clinically important bone dysplasia Gene Estimated proportion of homozygotesa Reported incidence rates
   Set 1b Set 2b Set 3b Set 4b Incidence ratesc Lower limitd Upper limitd
OI BMP1, LEPRE1, CRTAP, PLOD2, SERPINH1, FKBP10, SERPINF1, SEC24D 0 4.8.E − 05 4.8.E − 05 2.2.E − 04 4.5.E − 05 2.5.E − 05 6.4.E − 05
HPP ALPL 2.6.E − 05 6.4.E − 05 1.5.E − 04 6.6.E − 04 1.6.E − 05 4.0.E − 06 2.7.E − 05
ATD DYNC2H1, WDR34, IFT80, IFT172, IFT140, WDR19, TTC21B 1.7.E − 06 2.8.E − 05 2.8.E − 05 3.8.E − 05 1.6.E − 05 4.0.E − 06 2.7.E − 05
EVC EVC, EVC2 7.2.E − 07 5.2.E − 06 5.2.E − 06 1.4.E − 05 2.2.E − 06 −2.1.E − 06 6.6.E − 06
  1. aWe calculated the total frequency of homozygotes, by summing the expected homozygotes of pathogenic variants (Q2) for each causative gene.
  2. bSee “MaterialS and MethodS,” and Fig. 1 for variant classification and selection.
  3. cIncidence rates of the four diseases were from a previous report10 in 448,069 patients.
  4. dThe 95% confidence interval was calculated based on the binomial distribution.