Clinical and genetic analysis of a pedigree of Kennedy disease / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
; (6): 555-558, 2011.
Article
in Zh
| WPRIM
| ID: wpr-247214
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To review the clinical and genetic features of a pedigree of Kennedy disease in China.</p><p><b>METHODS</b>The clinical data of patients from a Kennedy disease family were collected. The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis.</p><p><b>RESULTS</b>In the pedigree, 4 patients were identified as Kennedy disease. Clinical manifested with adult-onset, progressive proximal limb muscle weakness and atrophy, gynecomastia, oligospermia were also presented. The number of trinucleotide CAG repeats in exon 1 of the androgen receptor gene was 51 in the proband. The electrophysiological study showed sensory and motor involvement and their serum triglycerides values were elevated significantly.</p><p><b>CONCLUSION</b>Androgen receptors gene testing is the most reliable diagnosing method, the patients suspected as Kennedy disease should have a gene testing of androgen receptors.</p>
Full text:
1
Database:
WPRIM
Main subject:
Pedigree
/
Molecular Sequence Data
/
Base Sequence
/
Receptors, Androgen
/
Trinucleotide Repeats
/
Diagnosis
/
Bulbo-Spinal Atrophy, X-Linked
/
Genetics
Type of study:
Diagnostic_studies
Limits:
Humans
/
Male
Language:
Zh
Journal:
Journal of Zhejiang University. Medical sciences
Year:
2011
Document type:
Article