Analysis of OCRL gene mutation in a male infant with Lowe syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 223-227, 2014.
Article
in Zh
| WPRIM
| ID: wpr-254477
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify pathological mutation in a Chinese male infant featuring oculocerebrorenal syndrome (also called Lowe syndrome).</p><p><b>METHODS</b>Clinical data of the patient were collected. DNA was extracted from peripheral blood of the infant and his parents. All of the 24 exons and intron-exon splice sites of OCRL gene were amplified with PCR. Mutations were detected by direct sequencing the PCR products.</p><p><b>RESULTS</b>The infant was found to have carried a c.1499G>A (p.R500Q) mutation in exon 15 of the OCRL gene, which was transmitted from his mother, who was heterozygous for the same mutation. The c.1499G>A mutation, discovered in Chinese population for the first time, has been reported to cause severe Lowe syndrome in other ethnic populations.</p><p><b>CONCLUSION</b>The c.1499G>A mutation of the OCRL gene is probably responsible for the disease in the patient. Further study of this mutation may facilitate delineation of the genotype-phenotype correlation of this disease.</p>
Full text:
1
Index:
WPRIM
Main subject:
Phosphoric Monoester Hydrolases
/
Genetics
/
Mutation
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Oculocerebrorenal Syndrome
Limits:
Humans
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Infant
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Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article