A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report
نویسندگان
چکیده
Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole-exome sequencing.
منابع مشابه
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.
Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These fami...
متن کاملEllis-van Creveld with an Unusual Dental Anomaly: A Case Report
The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal re...
متن کاملDepartment of Clinical and Experimental Medicine Division of Clinical Genetics Final Thesis PCR Optimisation and Sequencing of L1CAM for the Verification of a Mutation in a Family with L1 Syndrome
Language English Other (specify below) ________________ Report category Licentiate thesis Degree thesis Thesis, C-level Thesis, D-level Other (specify below) L1 syndrome is an X-linked recessive disorder, characterised by congenital hydrocephalus, adducted thumbs, spastic paraplegia, agenesis of the corpus callosum and mental retardation. The disease is caused by mutations in the L1CAM gene, en...
متن کاملAtypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report
Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, including typical SCID, Omenn syndrome (OS), atypical SCID (AS), or delayed onset combined immunodefici...
متن کاملProgeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness. The cardinal clinical findings were growth retardation, subcutaneous fat loss, skin dryness and wrinkling, scattered focal sclerodermoid-like changes, promin...
متن کامل