Hereditary isolate renal magnesium loss maps to chromosome 11q23

Article Abstract:

Hypomagnesemia resulting from isolated renal magnesium loss has been seen in two apparently unrelated Dutch families with autosomal dominant inheritance. A possible candidate region on chromosome 9q was excluded in a genomewide linkage study. It took in the gene for intestinal hypomagnesemia with secondary hypoglycemia. Linkage to markers on chromosome 11q23 was found. A common haplotype segregating in the families was identified. That suggested existence of a common ancestor and of one hypomagnesemia-causing mutation in the families. The 11q23 region takes in a gene different from the one involved in intestinal magnesium handling that is related to renal magnesium handling and mutated in the patients studied.

Germany, Kidneys, Kidney, Magnesium in the body, Magnesium (Nutrient)

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The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27

Article Abstract:

Leukoencephalopathy with vanishing white matter (VWM), an autosomal recessive disorder with normal early development and childhood-onset neurological deterioration in most cases, is discussed with the information that the gene that is located on chromosome 3q27. It had appeared from genealogical studies that seven parents in four Dutch families with VWM may have inherited a disease allele from a common ancestor at least eight generations back. A genome linkage screening has been carried out for 19 families of varying ethnic origins.

United States, Statistical Data Included, Familial diseases, Leukoencephalopathy

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Localization of the ICF syndrome to chromosome 20 by homozygosity mapping

Article Abstract:

Homozygosity mapping has enabled the ICF syndrome gene to be localized to chromosome 20. The full name of ICF syndrome is immunodeficiency in association with centromere instability of chromosomes 1,9, and 16 and facial anomalies. The chromosome region 20q11-q13 was found to be homozygous in ICF patients and heterozygous in healthy sibs. The ICF locus is situated in a 9-cM region between markers D20S477 and D20S850.

Immunological deficiency syndromes, Immunologic deficiency syndromes, Face, Facies (Medicine)

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