Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6.

Abstract

The association of anophthalmia, arrhinia, and hypogonadism constitutes the major clinical features for Bosma arrhinia microphthalmia syndrome. However, there is variability in the presentation of this disease; arrhinia is the most constant clinical feature, which is then combined with a spectrum of anophthalmia/microphthalmia and/or hypogonadism. This rare entity is not associated with any specific genes, but the genes that are related to arrhinia and anophthalmia have been studied in an attempt to explain this phenomenon. We analyzed the PAX6 gene in a Bosma arrhinia microphthalmia syndrome patient but found no variation or mutation that could constitute or establish a causal association in our patient.

• Authors: Luis E Becerra-Solano, Liliana Chacón, Dinorah Morales-Mata, Juan C Zenteno, Maria L Ramírez-Dueñas, Jose E García-Ortiz
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 25 Issue 1 Pg. 12-5 (Jan 2016) ISSN: 1473-5717 [Electronic] England
• PMID: 26440771 (Publication Type: Case Reports, Journal Article)

Chemical References

• Eye Proteins
• Homeodomain Proteins
• PAX6 Transcription Factor
• PAX6 protein, human
• Paired Box Transcription Factors
• Repressor Proteins

Topics

• Choanal Atresia (genetics)
• Eye Proteins (genetics)
• Homeodomain Proteins (genetics)
• Humans
• Infant
• Male
• Mexico
• Microphthalmos (genetics)
• Mutation
• Nose (abnormalities)
• PAX6 Transcription Factor
• Paired Box Transcription Factors (genetics)
• Repressor Proteins (genetics)