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

Ruti Parvari, Eli Hershkovitz, Adam Kanis, Rafael Gorodischer, Shlomit Shalitin, Val C. Sheffield, Rivka Carmi

Research output: Contribution to journalArticlepeer-review

Abstract

The syndrome of hypoparathyroidism associated with growth retardation, developmental delay, and dysmorphism (HRD) is a newly described, autosomal recessive, congenital disorder with severe, often fatal consequences. Since the syndrome is very rare, with all parents of affected individuals being consanguineous, it is presumed to be caused by homozygous inheritance of a single recessive mutation from a common ancestor. To localize the HRD gene, we performed a genomewide screen using DNA pooling and homozygosity mapping for apparently unlinked kindreds. Analysis of a panel of 359 highly polymorphic markers revealed linkage to D1S235. The maximum LOD score obtained was 4.11 at a recombination fraction of 0. Analysis of three additional markers-GGAA6F06, D1S2678, and D1S179-in a 2-cM interval around D1S235 resulted in LOD scores >3. Analysis of additional chromosome 1 markers revealed evidence of genetic linkage disequilibrium and place the HRD locus within an ~1-cM interval defined by D1S1540 and D1S2678 on chromosome 1q42- 43.

Original languageEnglish
Pages (from-to)163-169
Number of pages7
JournalAmerican Journal of Human Genetics
Volume63
Issue number1
DOIs
StatePublished - Jul 1998
Externally publishedYes

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