Sarig et al. SOFT syndrome caused by a mutation in POC1A

ABSTRACT: Disproportionate short stature refers to a heterogeneous group of hereditary disorders, which are classified according to their mode of inheritance, their clinical skeletal and non-skeletal manifestations, and their radiological characteristics. In the present study, we report on a novel autosomal recessive osteocutaneous disorder that we termed short stature-onychodysplasia-facial dysmorphism-hypotrichosis (SOFT) syndrome. we identified a homozygous point mutation (p.L171P) in POC1A (Centriolar Protein Homolog A). The mutation affects a highly conserved amino acid residue and is predicted to interfere with protein function. To gain insight into the pathomechanisms underlying the deleterious effect of the causative mutation, we compared transcription profiles of patient and control fibroblasts.

ORGANISM(S): Homo sapiens

DISEASE(S): short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SUBMITTER: Ofer Sarig 

PROVIDER: E-MEXP-3650 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress