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Aniridia caused by a heritable chromosome 11 deletion
Insights
A child with a severe genetic syndrome involving aniridia and developmental delays has a deletion on chromosome 11 short arm (11p). This deletion, inherited from her mother, highlights the role of 11p deletions in complex genetic disorders.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- Aniridia is a rare genetic disorder affecting eye development.
- Chromosome 11p deletions are associated with various congenital anomalies and developmental issues.
- The aniridia-Wilms' tumor association is a known contiguous gene deletion syndrome.
Observation:
- A child presented with aniridia, multiple anomalies, failure to thrive, and severe psychomotor retardation.
- The child's karyotype revealed a deletion on the short arm of chromosome 11 (del [11p]).
- This deletion was inherited from the mother, who had a complex chromosome 11 rearrangement.
Findings:
- The patient's del (11p) syndrome was more severe than previously reported cases with overlapping deletions.
- The specific deletion breakpoint (pter to p14::p11.3 to qter) was identified.
- Comparison of the 11p deletion basis for aniridia with other genetic causes of aniridia was discussed.
Implications:
- This case underscores the phenotypic variability and severity associated with 11p deletions.
- Understanding the genetic basis of aniridia, including 11p deletions, is crucial for diagnosis and genetic counseling.
- Further research into the specific genes within the deleted region may elucidate mechanisms underlying these complex syndromes.
Abstract:
A child with aniridia, multiple anomalies, severe failure to thrive, and severe psychomotor retardation is shown to have a syndrome similar to, though more severe than, other patients with overlapping deletions of the short arm of chromosome 11 (Pediatrics 64:604, 1978). Her deletion (46,XX,del [11p] [pter yields p14::p11.3 yields qter]) was derived from her mother, who has a chromosome 11 shift (46,XX,der [11] [pter yields p14::p11.3 yields q22::p14 yields p11.3::q22 yields qter]). The significance of del (11p) in the aniridia-Wilms' tumor association is discussed, and the del (11p) basis for aniridia is compared with other genetic bases for aniridia.