RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
Am J Med Genet A
; 194(6): e63562, 2024 06.
Article
in En
| MEDLINE
| ID: mdl-38337186
ABSTRACT
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 failure, metaphyseal dysplasia, hair hypoplasia, immunodeficiency, and other extraskeletal manifestations. Herein, we report six Japanese individuals with CHH from four families. All probands presented with moderate short stature with mild metaphyseal dysplasia or brachydactyly. One of them had hair hypoplasia and the other immunodeficiency. By contrast, the affected siblings of two families showed only mild short stature. We also reviewed all previously reported 13 Japanese individuals. No n.71A > G allele was detected. The proportions of Japanese versus Finnish individuals were 0% versus 70% for birth length < -2.0 SD, 84% versus 100% for metaphyseal dysplasia and 26% versus 88% for hair hypoplasia. Milder manifestations in the Japanese individuals may be related to the difference of genotypes. The mildest form of CHH phenotypes is mild short stature without overt skeletal alteration or extraskeletal manifestation and can be termed "RMRP-related short stature".
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteochondrodysplasias
/
Hair
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2024
Document type:
Article
Affiliation country:
Japón