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Infantile systemic hyalinosis: a case report with a novel mutation
Siham Al Sinani1, Fathyia Al Murshedy, Reem Abdwani
1Department of Child Health, Sultan Qaboos University Hospital, Al Khoud, Sultanate of Oman.
Oman Medical Journal
|February 7, 2013
Summary
Infantile Systemic Hyalinosis (ISH) is a rare genetic disorder causing severe pain and joint issues. A novel ANTXR2 gene mutation was identified in an Omani child, highlighting the disease
Area of Science:
- Genetics and rare diseases
- Molecular biology
- Pediatric pathology
Background:
- Infantile Systemic Hyalinosis (ISH) is a rare, fatal autosomal recessive disorder.
- Characterized by hyaline material deposition, skin nodules, gingival hypertrophy, and organ dysfunction.
- Caused by mutations in the ANTXR2 gene, crucial for endothelial development.
Observation:
- A case of classical ISH presenting in infancy with severe pain and joint contractures.
- The patient exhibited features consistent with ISH, including progressive debilitating symptoms.
- This is the first reported case of ISH in Oman.
Findings:
- Molecular DNA sequencing confirmed ISH diagnosis.
- A novel homozygous mutation in the ANTXR2 gene (c.867_945del, p.E289DfsX22) was identified.
- This mutation involved a 79 bp deletion of exon 11.
Implications:
- Suggests ISH may be under-diagnosed, particularly in regions with limited diagnostic resources.
- Early diagnosis and genetic confirmation are crucial for understanding and managing ISH.
- Highlights the importance of ANTXR2 gene sequencing for diagnosing rare pediatric disorders.
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