Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations
| Autor: | Tahir Atik, Ozgur Cogulu, Esra Isik, Hüseyin Onay, Ferda Ozkinay, Bilçağ Akgün |
|---|---|
| Přispěvatelé: | Ege Üniversitesi |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Genetic counseling Neural Cell Adhesion Molecule L1 Bioinformatics medicine.disease_cause Adducted thumb Adducted thumbs 03 medical and health sciences Intellectual Disability Intellectual disability Humans Medicine Global developmental delay L1 syndrome X-linked recessive inheritance Mutation Spastic Paraplegia Hereditary business.industry Genetic Diseases X-Linked General Medicine medicine.disease Pedigree Hydrocephalus 030104 developmental biology Child Preschool L1CAM Surgery Neurology (clinical) business |
| Popis: | WOS: 000442980000003 PubMed ID: 29960101 L1 syndrome is a rare X linked recessive disorder caused bygene mutations in the L1 cell adhesion molecule (L1CAM), and characterized by hydrocephalus, intellectual disability, adducted thumbs and spasticity of the legs. The gene encodes a protein which plays an important role in neuronal development. Two unrelated L1 syndrome cases, with global developmental delay and hydrocephalus, were referred to pediatric genetics subdivision for genetic counseling. Bilateral adducted thumbs and spasticity in the lower extremities were also observed in both patients. Molecular analysis revealed two novel hemizygous mutations in the patients: a deletion mutation (c.749delG; p.Ser250Thrfs*51) and a splicing mutation (c.3166 + 1G > A). To conclude; in male patients with intellectual disability and hydrocephalus, where adducted thumbs are present, L1 syndrome should be considered. |
| Databáze: | OpenAIRE |
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