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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]

Author information

1
Department of Medical Genetics, Affiliated Hospital of Huaihua School of Medicine, Huaihua, Hunan 418000, P.R. China. shenxq2012@126.com.

Abstract

OBJECTIVE:

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

METHODS:

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.

RESULTS:

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.

CONCLUSION:

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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