|Classification and external resources|
The disorder has been associated with mutations in the L1CAM gene. This syndrome has severe symptoms in males, while females are carriers because only one X-chromosome is affected.
A diagnosis can be made on the combination of clinical features. This can then be confirmed by gene sequencing.
A prenatal diagnostic is possible and very reliable when mother is carrier of the syndrome. First, it's necessary to determine the fetus' sex and then study X-chromosomes. In both cases, the probability to transfer the X-chromosome affected to the descendants is 50%. Male descendants who inherit the affected chromosome will express the symptoms of the syndrome, but females who do will be carriers.
- Online Mendelian Inheritance in Man (OMIM) 303350
- "L1 syndrome". Genetics Home Reference.
- Winter RM, D. K.; Davies, K. E.; Bell, M. V.; Huson, S. M.; Patterson, M. N. (July 1989). "MASA syndrome: further clinical delineation and chromosomal localisation". Human Genetics. 82 (4): 367–370. doi:10.1007/bf00273999. PMID 2737668.
- Bianchine JW, Lewis RC (1974). "The MASA syndrome: a new heritable mental retardation syndrome". Clin. Genet. 5 (4): 298–306. doi:10.1111/j.1399-0004.1974.tb01697.x. PMID 4855169.
- Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995). "CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1". European Journal of Human Genetics. 3 (5): 273–84. PMID 8556302.
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