Clinical characteristics and genetic mutation analysis in a Hui family with Huntington disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To perform clinical analysis and gene diagnosis of Huntington disease (HD) in a Hui pedigree from Xinjiang.</p><p><b>METHODS</b>The IT15 gene mutation of the Hui family was analyzed by touchdown PCR, molecular cloning and gene sequencing.</p><p><b>RESULTS</b>The proband carried 46 CAG repeats. Pain in bilateral lower limb was the first symptom, followed by symptoms such as dance like involuntary movements, mood disorders, impaired memory and intelligence. Asymptomatic son of the proband carried 44 CAG repeats.</p><p><b>CONCLUSION</b>This family showed reduced CAG trinucleotide repeats of IT15 gene during maternal transmission. A CAA variation is also detected within the CAG repeat region.</p>