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Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
Lucas Perez Vicente1, Simone Finzi1, Remo Susanna1
1Department of Ophthalmology, Universidade de São Paulo (USP), São Paulo, SP, Brazil.
Arquivos Brasileiros De Oftalmologia
|April 6, 2017
Summary
Hypotrichosis with juvenile macular dystrophy, a rare genetic disorder, causes sparse hair and progressive vision loss. A novel CDH3 gene mutation was identified in an affected Iranian boy, impacting P-cadherin production.
Area of Science:
- Genetics
- Ophthalmology
- Dermatology
Background:
- Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder.
- It is characterized by sparse scalp hair and progressive retinal degeneration, leading to blindness.
Observation:
- A case study of an 11-year-old Iranian boy with congenital nail anomaly and sparse hair.
- The patient later developed macular pigmentary changes.
Findings:
- Genetic analysis revealed a novel homozygous mutation in the cadherin 3 (CDH3) gene (c.640A>T) in exon 6.
- This mutation leads to an in-frame change, converting lysine to a premature stop codon, affecting P-cadherin synthesis.
Implications:
- This finding expands the known spectrum of CDH3 mutations associated with hypotrichosis and macular dystrophy.
- Understanding P-cadherin's role is crucial for diagnosing and potentially treating this rare condition.