Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation

Conor Heaney, Hana Shalev, Khalil Elbedour, Rivka Carmi, Jeffrey Staack, Val C. Sheffield, David R. Beier

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)1407-1410
Number of pages4
JournalHuman molecular genetics
Volume7
Issue number9
DOIs
StatePublished - Sep 1 1998

Fingerprint

Osteosclerosis
Osteopetrosis
Bone and Bones
Mutation
Deaf-Blind Disorders
Synteny
Phenotype
Chromosomes, Human, Pair 19
Craniosynostoses
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Osteoclasts
Microsatellite Repeats
Genetic Recombination
Anemia
Bone Marrow
Transplants

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. / Heaney, Conor; Shalev, Hana; Elbedour, Khalil; Carmi, Rivka; Staack, Jeffrey; Sheffield, Val C.; Beier, David R.

In: Human molecular genetics, Vol. 7, No. 9, 01.09.1998, p. 1407-1410.

Research output: Contribution to journalArticle

Heaney, Conor ; Shalev, Hana ; Elbedour, Khalil ; Carmi, Rivka ; Staack, Jeffrey ; Sheffield, Val C. ; Beier, David R. / Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. In: Human molecular genetics. 1998 ; Vol. 7, No. 9. pp. 1407-1410.
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AU - Staack, Jeffrey

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