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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):645-8. doi: 10.3760/cma.j.issn.1003-9406.2013.06.002.

[Genetic diagnosis for a Chinese Han family with hereditary multiple osteochondromas].

[Article in Chinese]

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Department of Medical Genetics, Affiliated Hospital of Huaihua School of Medicine, Huaihua, Hunan 418000, P.R. China.



To identify the genetic cause for a Chinese Han family affected with hereditary multiple osteochondromas.


Two patients, five unaffected relatives of the family and 100 unrelated healthy controls were collected. The coding sequences and intron/exon boundaries of EXT1 gene were amplified with polymerase chain reaction (PCR) and sequenced.


A heterozygous c.600G>A (p.Trp200X) mutation in exon 1 of the EXT1 gene was detected in the patients. The same mutation was not found in unaffected family members and 100 healthy controls.


The hereditary multiple osteochondromas in the family is caused by a nonsense mutation (p.Trp200X) in the EXT1 gene.

[Indexed for MEDLINE]

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