Journal article
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation
Human molecular genetics, Vol.7(9), pp.1407-1410
1998
DOI: 10.1093/hmg/7.9.1407
PMID: 9700194
Abstract
Autosomal recessive osteopetrosis is a rare congenital disorder characterized by the development of abnormally dense bones, acrocephaly, severe anemia, hepatosplenomegaly and progressive deafness and blindness. The clinical course is rapidly progressive and is lethal at a very young age in the absence of a bone marrow transplant. The failure to remodel developing bone that is the basis of the disease process is most likely due to a dysfunction of the bone resorptive cell, the osteoclast. This phenotype is similar to that of the murine mutation osteosclerosis (oc), which is localized to proximal mouse chromosome 19. Given the similarity between the human and murine phenotypes, we tested whether human osteopetrosis maps to a region of conserved synteny. Microsatellite markers in the region of 11q12–13 were found to be linked to osteopetrosis in two consanguineous Bedouin kindreds. Recombination events were used to define the disease interval to an ∼14 cM region between D11S1983 and D11S2371. A maximum LOD score of 7.94 was obtained with D11S449 at θ = 0.
Details
- Title: Subtitle
- Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation
- Creators
- Connor Heaney - Department of Pediatrics, University of Iowa, Iowa City, IA, United StatesHana Shalev - Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, IsraelKhalil Elbedour - Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, IsraelRivka Carmi - Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, IsraelJeffrey B Staack - Department of Pediatrics, University of Iowa, Iowa City, IA, United StatesVal C Sheffield - Department of Pediatrics, University of Iowa, Iowa City, IA, United StatesDavid R Beier - Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, Israel
- Resource Type
- Journal article
- Publication Details
- Human molecular genetics, Vol.7(9), pp.1407-1410
- Publisher
- Oxford University Press; Oxford
- DOI
- 10.1093/hmg/7.9.1407
- PMID
- 9700194
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- Language
- English
- Date published
- 1998
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984065493402771
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