Genetic diagnosis for a Chinese Han family with hereditary multiple osteochondromas / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 645-648, 2013.
Article
in Zh
| WPRIM
| ID: wpr-254545
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the genetic cause for a Chinese Han family affected with hereditary multiple osteochondromas.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The hereditary multiple osteochondromas in the family is caused by a nonsense mutation (p.Trp200X) in the EXT1 gene.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Exostoses, Multiple Hereditary
/
N-Acetylglucosaminyltransferases
/
Asian People
/
Diagnosis
/
Genetics
/
Heterozygote
/
Mutation
Type of study:
Diagnostic_studies
Limits:
Child
/
Female
/
Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article