Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 366-369, 2014.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-269471
Responsible library:
WPRO
ABSTRACT
Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked recessive disorder. This study investigated the history of a Chinese family with OCRL and used direct DNA sequencing to screen all exons of OCRL gene for mutations. A missense mutation (1736 A→G) in exon 15 was revealed, which resulted in the change of His (H) 507 to Arg (R). The patient's mother was the carrier of the heterozygous mutation in X-chromosome. To our knowledge, H507R mutation in OCRL gene has not been reported in Chinese people.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Phosphoric Monoester Hydrolases
/
Mutation, Missense
/
Genetics
/
Oculocerebrorenal Syndrome
Limits:
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2014
Document type:
Article