Spectrum of mutations in alpha-mannosidosis

Article Abstract:

The spectrum of mutations in alpha-mannosidosis, an autosomal recessive disorder arising from deficiency of lysosomal alpha-mannosidase (LAMAN), has been studied. In the screening of 43 patients from 39 families, mainly European in origin, 21 novel mutations and four polymorphic amino acid positions were found. Disease-causing mutations, most private or only in two or three families, with the exception of a missense mutation that brought on an R750W substitution, were found in 72% of the alleles.

Europe, Norway, Enzymes

---

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

Article Abstract:

Autosomal dominant hypercholesterolemia (ADH), one of the most common hereditary disorders, maps to 1p34.1-p32 and is genetically more heterogeneous than usually thought. One large French pedigree and 12 other white families with ADH were identified, and linkage to LDLR and APOB were excluded. A new locus was implicated. ADH is characterized by an isolated elevation of LDL particles, brings premature mortality, and is usually thought to come from mutations in the LDLR and APOB genes.

France, South Africa, Argentina, Spain, Hypercholesterolemia

---

Similar abstracts:

• Abstracts: Are we ready to try to cure alkaptonuria? Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37
• Abstracts: Mitochrondrial dysfunction in idiopathic Parkinson disease. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.