Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.
Clin Genet
; 92(2): 204-207, 2017 Aug.
Article
in En
| MEDLINE
| ID: mdl-28094436
ABSTRACT
The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA). Through the Finnish Skeletal Dysplasia Register, we identified 3 additional patients with identical genotype. Two of them also showed unusually mild growth failure (height SDS -1.6 at 14 years and -3.0 at 12 years, respectively). Three of the 4 patients suffered from recurrent infections; 1 developed progressive bronchiectasis and another died from aggressive lymphoma. Our findings expand the phenotypic variability in CHH to include normal childhood height. The milder growth retardation related to this particular genotype was not associated with less severe extra-skeletal manifestations, emphasizing the need for careful follow-up also in CHH patients with mild-skeletal manifestations.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteochondrodysplasias
/
Genetic Predisposition to Disease
/
RNA, Long Noncoding
/
Hair
/
Hirschsprung Disease
/
Immunologic Deficiency Syndromes
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Child
/
Humans
/
Male
Language:
En
Journal:
Clin Genet
Year:
2017
Document type:
Article
Affiliation country:
Finland