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X-linked hydrocephalus: another two families with an L1 mutation
G Rodríguez Criado1, A Pérez Aytés, F Martínez
1Unidad de Dismorfología, H.I.U.V. Rocío, Sevilla, Spain.
Genetic Counseling (Geneva, Switzerland)
|May 3, 2003
Summary
X-linked hydrocephalus, caused by L1CAM gene mutations, presents a wide spectrum of symptoms. Further clinical and neuropathological reports are crucial for understanding this genetic disorder.
Area of Science:
- Genetics
- Neurology
- Developmental Biology
Background:
- X-linked hydrocephalus is a variable genetic disorder.
- Mutations in the L1CAM gene, located at Xq28, cause this condition.
- Clinical manifestations range from lethal congenital hydrocephalus to mental retardation and spastic paraplegia in males, with few affected females.
Purpose of the Study:
- To report two new families with X-linked hydrocephalus and L1CAM mutations.
- To emphasize the importance of clinical and neuropathological data in understanding the disorder.
- To highlight the possibility of prenatal testing for L1CAM mutations.
Main Methods:
- Clinical diagnosis in affected males.
- Identification of L1CAM gene mutations.
- Review of clinical and neuropathological findings.
Main Results:
- Two new families with three affected boys exhibiting L1CAM mutations were identified.
- Clinical diagnosis was confirmed in all affected individuals.
- Prenatal testing is feasible with a demonstrated L1 mutation.
Conclusions:
- L1CAM mutations are the cause of X-linked hydrocephalus.
- Further clinical reports, including neuropathology and DNA analysis, are essential for a comprehensive understanding.
- Early diagnosis and genetic counseling are important for affected families.