title: SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
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.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.|Research Coordination Center for Rare Diseases, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Soyoon
authors.initials: S
authors.lastname: Jung
authors.affiliation: Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jieun
authors.initials: J
authors.lastname: Seo
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Choong Ho
authors.initials: CH
authors.lastname: Shin
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.|Research Coordination Center for Rare Diseases, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
authors.affiliation: Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Murim
authors.initials: M
authors.lastname: Choi
authors.affiliation: Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea.
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.affiliation: Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D019943:Amino Acid Substitution; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D059472:Exome; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D012863:Skeleton / Q000473:pathology*; D013577:Syndrome
chemical_list: D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; C575745:POC1A protein, human; D011506:Proteins