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Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2021 Feb; Vol. 64 (2), pp. 104136. Date of Electronic Publication: 2021 Jan 12. - Publication Year :
- 2021
-
Abstract
- Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage hair hypoplasia syndrome has a broad phenotype and it is caused by homozygous or compound heterozygous mutation in the mitochondrial RNA-processing endoribonuclease on chromosome 9p13. Although it is well known as a primordial dwarfism, descriptions of the prenatal growth are missing. To add further details to the knowledge of the phenotypic spectrum of the disease, we report on two siblings with cartilage hair hypoplasia syndrome, presenting n.64C > T homozygous mutation in the mitochondrial RNA-processing endoribonuclease gene. We describe the prenatal and postnatal growth pattern of the two affected patients, showing severe pre- and post-natal growth deficiency.<br /> (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)
- Subjects :
- Female
Hair pathology
Hirschsprung Disease pathology
Homozygote
Humans
Infant
Male
Osteochondrodysplasias genetics
Osteochondrodysplasias pathology
Phenotype
Point Mutation
Primary Immunodeficiency Diseases pathology
Siblings
Hair abnormalities
Hirschsprung Disease genetics
Osteochondrodysplasias congenital
Primary Immunodeficiency Diseases genetics
RNA, Long Noncoding genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 64
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 33444820
- Full Text :
- https://doi.org/10.1016/j.ejmg.2021.104136