SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
J Hum Genet
; 61(6): 561-4, 2016 Jun.
Article
in En
| MEDLINE
| ID: mdl-26791357
ABSTRACT
SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene. Only 19 patients with mutation-confirmed SOFT syndrome have been reported to date, all of whom carried homozygous variants that were strongly associated with consanguineous marriages. We report an 8.5-year-old boy with SOFT syndrome showing primordial dwarfism, no effect of growth-hormone therapy and skeletal dysplasia. This is the first report of compound heterozygous variants in POC1A, one previously reported and the other novel. A characteristic skeletal manifestation is reported.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Skeleton
/
Abnormalities, Multiple
/
Proteins
/
Heterozygote
/
Mutation
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2016
Type:
Article