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SOFT syndrome in a patient from Chile
Ken Saida1, Sebastian Silva2, Benjamin Solar2
1Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
American Journal of Medical Genetics. Part A
|December 21, 2018
Summary
SOFT syndrome, a rare primordial dwarfism, is linked to POC1A gene mutations. A novel mutation was identified in a Chilean girl, presenting with atypical bone age development, underscoring the need for more patient data.
Area of Science:
- Genetics
- Pediatrics
- Skeletal Dysplasias
Background:
- SOFT syndrome is an extremely rare primordial dwarfism.
- It is caused by biallelic mutations in the POC1A gene.
- Characterized by prenatal short stature, onychodysplasia, facial dysmorphism, hypotrichosis, and skeletal abnormalities.
Observation:
- A 7-year-old Chilean girl presented with clinical features consistent with SOFT syndrome.
- She carried a novel POC1A mutation: c.649C>T, p.Arg217Trp.
- Hand X-rays at 3.5 and 6 years unexpectedly revealed normal bone age, contrasting with typical delayed bone age in SOFT syndrome.
Findings:
- The patient's novel POC1A mutation, p.Arg217Trp, contributes to SOFT syndrome.
- Automated bone age determination using BoneXpert software was employed.
- This case presents an atypical finding of normal bone age in a patient with SOFT syndrome.
Implications:
- This case expands the known spectrum of clinical presentations for POC1A mutations.
- Highlights the importance of detailed patient phenotyping in rare genetic disorders.
- Accumulating data on POC1A mutations is crucial for a comprehensive understanding of SOFT syndrome.
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