Article
RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
American journal of medical genetics. Part A - 1 Jun 2024
Uchida Noboru, Ishii Tomohiro, Nishimura Gen, Sato Takeshi, Kuratsuji Gen, Nagasaki Keisuke, Hosokawa Yuki, Adachi Eriko, Takasawa Kei, Kashimada Kenichi, Tsujioka Yuko, Hasegawa Tomonobu
Abstract excerpt
Biallelic pathogenic variants in RMRP, the gene encoding the RNA component of RNase mitochondrial RNA processing enzyme complex, have been reported in individuals with cartilage hair hypoplasia (CHH). CHH is prevalent in Finnish and Amish populations due to a founder pathogenic variant, n.71A > G. Based on the manifestations in the Finnish and Amish individuals, the hallmarks of CHH are prenatal-onset growth...
Topics
- Alleles
- East Asian People
- Adolescent
- Scandinavians and Nordic People
- Mutation
- Child, Preschool
- RNA, Long Noncoding
- Female
- Phenotype
- Pedigree
- Humans
- Primary Immunodeficiency Diseases
- Dwarfism