Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication
Maria Juliana Ballesta-Martínez1, Vanesa López-González, Lluis Armengol Dulcet
1Unidad de Genética Médica y Dismorfología, Servicio de Pediatría, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain. mjuliana.ballesta@carm.es
American Journal of Medical Genetics. Part A
|June 25, 2013
Summary
Oculoauriculovertebral spectrum (OAVS) involves developmental defects of the first and second branchial arches. A family with OAVS and autosomal dominant inheritance showed a 14q23.1 duplication including the OTX2 gene, suggesting its role in OAVS pathogenesis.
Area of Science:
- Medical Genetics
- Developmental Biology
- Clinical Dysmorphology
Background:
- Oculoauriculovertebral spectrum (OAVS) is a congenital disorder characterized by anomalies of the first and second branchial arches.
- OAVS presents with significant phenotypic variability, affecting craniofacial structures (ear, mouth, jaw) and vertebral development, with associated systemic anomalies possible.
Observation:
- A family exhibiting OAVS with an autosomal dominant inheritance pattern was studied.
- Genetic analysis identified a 1.34 Mb duplication at chromosome 14q23.1 that segregated with the OAVS phenotype within the family.
Findings:
- The identified 14q23.1 duplication encompasses the OTX2 gene.
- OTX2 is a crucial transcription factor involved in the development of the forebrain, eyes, and ears.
Implications:
- This finding implicates OTX2 duplication as a potential cause of OAVS, providing new insights into the genetic basis of this disorder.
- Understanding the role of OTX2 in OAVS pathogenesis may aid in diagnosis, genetic counseling, and future therapeutic strategies.
Related Concept Videos
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:11Genetic Lingo
Overview
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
02:25Centrosome Duplication
The primary microtubule organizing center (MTOC) in animal cells is the centrosome. A centrosome has two cylindrical centrioles at its core. Each centriole consists of nine sets of three microtubules held together by proteins. The centrioles are positioned at right angles to each other and surrounded by a shapeless protein cloud called the pericentriolar matrix, or pericentriolar material (PCM).
To ensure that each daughter cell receives a centrosome after cell division, centrosome duplication...
To ensure that each daughter cell receives a centrosome after cell division, centrosome duplication...
02:25Centrosome Duplication
The primary microtubule organizing center (MTOC) in animal cells is the centrosome. A centrosome has two cylindrical centrioles at its core. Each centriole consists of nine sets of three microtubules held together by proteins. The centrioles are positioned at right angles to each other and surrounded by a shapeless protein cloud called the pericentriolar matrix, or pericentriolar material (PCM).
To ensure that each daughter cell receives a centrosome after cell division, centrosome duplication...
To ensure that each daughter cell receives a centrosome after cell division, centrosome duplication...