The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

Article Abstract:

Linkage analysis of the 4-generation family with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis and abnormal behavior (MRXS10) reveals a candidate region of 13.4 Mb between markers DXS1201 and DXS991 on Xp11. Mutation analysis is performed by direct sequencing in the 135 annotated genes located in the region which suggests that reduced expression of the HADH2 protein causes MRXS10.

Germany, Risk factors, Mental illness, Mental disorders, Phenotype, Phenotypes, Genetic disorders

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Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

Article Abstract:

A second patient with 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, who was identified through blood spot acylcarnitine analysis showing persistently increased levels of hydroxyl-[C.sub.4]-camitine, is presented. It is concluded that a carefully interpreted acylcarnitine profile would allow more patients with 3-hydroyisobutyryl-CoA hydrolase deficiency to be diagnosed.

Enzymes, Nervous system, Carnitine, Hydrolases, Neurodegenerative diseases, Butyl compounds, Report

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Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

Article Abstract:

Smith-Lemli-Opitz syndrome is the result of 7-dehydrocholesterol reductase gene mutations. The disorder occurs frequently and is characterized by multiple congenital anomalies including mental retardation and facial dysmorphisms. It comes from deficiency of activity of 7-dehydrocholesterol reductase, a catalyst for the final step in the cholesterol-biosynthesis pathway.

Netherlands, Usage, Birth defects, Chromosome mapping, Cellular control mechanisms, Cell regulation, Sterols

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