Clinical and molecular-genetic aspects of inherited nanism in the yakut people with gene CUL 7 mutation
Abstract
For the first time the clinical and molecular-genetical investigation of 43 patients and 39 their relatives from 37 unrelated Yakut families with hereditary autosomal recessive nanism in Republic Sakha (Yakutia) were performed. The novel nonsense - mutation 4582insT in gene CUL7 causing rare in the world 3-M syndrome was identified. The Yakut patients with 3-M syndrome had a typical phenotype, but without typical radiological features (slender tubular bones and edges were ob-served only at one, tall vertebral bodies at 4 patients).
About the Authors
N. R. Maksimova
ЯНЦ СО РАМН
Russian Federation
Russian Federation
A. N. Nogovitsyna
РБ №1-НЦМ
Russian Federation
Russian Federation
A. L. Sukhomyasova
РБ №1-НЦМ
Russian Federation
Russian Federation
E. E. Gurinova
РБ №1- НЦМ
Russian Federation
Russian Federation
S. P. Alekseeva
РБ №1-НЦМ
Russian Federation
Russian Federation
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Review
For citations:
Maksimova N.R., Nogovitsyna A.N., Sukhomyasova A.L., Gurinova E.E., Alekseeva S.P. Clinical and molecular-genetic aspects of inherited nanism in the yakut people with gene CUL 7 mutation. Yakut Medical Journal. 2007;(2):6-9. (In Russ.)
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