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A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular
Andressa Barreto Glaeser1, Bruna Lixinski Diniz1, Andressa Schneiders Santos2
1Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.
Insights
Cat eye syndrome (CES), a rare chromosomal disorder, involves a supernumerary chromosome. This study investigates the genetic link between CES and oculoauriculovertebral spectrum phenotype (OAVS) in a patient with both conditions.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- Cat eye syndrome (CES) is a rare chromosomal disorder characterized by a supernumerary bisatellited chromosome, often an inv dup(22)(q11).
- The 22q11 region is implicated in various genetic disorders due to its susceptibility to chromosomal rearrangements and involvement in gene dosage variations.
Observation:
- This study presents a molecular evaluation of the first described patient with both Cat eye syndrome and the oculoauriculovertebral spectrum phenotype (OAVS).
- The patient exhibits a phenotype potentially explained by shared genetic factors within the 22q11 region.
Findings:
- The molecular evaluation provides an update on the genetic findings in this co-occurring condition.
- Results aim to elucidate the potential underlying mechanisms contributing to the simultaneous presence of CES and OAVS.
Implications:
- Understanding the genetic overlap between CES and OAVS can improve diagnostic approaches.
- This research contributes to the knowledge of 22q11-related disorders and their phenotypic variability.
Abstract:
Cat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth. A small supernumerary chromosome is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11) in those affected. It's known that the 22q11 region is associated with disorders involving higher and lower gene dosages. Conditions such as CES, 22q11 microduplication syndrome (Dup22q11) and oculoauriculovertebral spectrum phenotype (OAVS) may share genes belonging to this same region, which is known to have a predisposition to chromosomal rearrangements. The conditions, besides being related to chromosome 22, also share similar phenotypes. Here we have added a molecular evaluation update and results found of the first patient described with CES and OAVS phenotype, trying to explain the potential mechanism involved in the occurrence of this association.
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