whole-exome sequencing for Cartilage-hair hypoplasia

Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia caused by variants in the RMRP gene. We used whole-exome sequencing to detect possible pathogenic variants in a Chinese patient who had typical short stature and sparse hair. A novel compound heterozygous variant in the affected patient in RMRP was identified.