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.
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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.
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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.
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