Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43

Article Abstract:

To localize the hypoparathyroidism associated with retarded growth, delayed development and dysmorphism (HRD) gene, a genomewide screen has been carried out using DNA pooling and homozygosity mapping for apparently unlinked kindred groups. Linkage to D1S2435 was found. Ultimately analysis showed the syndrome links to a 1-cM interval on chromosome 1q42-43. The syndrome is a very rare, newly described, autosomal recessive, congenital disorder with severe, often fatal, consequences. All parents of those affected are consanguineous. It was thus assumed to come from homozygous inheritance of a single recessive mutation from a common ancestor.

Congenital hypothyroidism

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Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p

Article Abstract:

Bartter syndrome (BS) is linked to chromosome 1p31, based on data from a DNA-pooling study. BS is a family of disorders that brings hypokalemic hypochloremic metabolic alkalosis and normotensive heyperreninemic hyperaldosteronism. A unique inbred Bedouin lineage in which sensorineural deafness (SND) cosegregates with a variant of the BS phenotype found in infants has been studied. Genes of two kidney-specific chloride channels and a sodium/hydrogen antiporter, near the region, have been ruled out as candidates. It can be postulated that there is one single genetic alteration for SND and BS phenotypes.

Health aspects, Deafness, Hyperaldosteronism, Alkalosis, Inbreeding, Metabolism, Inborn errors of, Inborn errors of metabolism

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A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping

Article Abstract:

An Israeli Bedouin kindred in which a novel autosomal recessively inherited infantile nephronophthisis is found shows linkage to chromosome 9q22-31, shown by homozygosity mapping using a genomewide screen for linkage. End-stage renal failure occurs within 3 years in those affected.

Statistical Data Included, Diseases, Kidney diseases

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