Missense mutation R121W in the Norrie disease gene in Kuwaiti Bedouin family
Egyptian Journal of Medical Human Genetics [The]. 2006; 7 (1): 83-88
in English
| IMEMR
| ID: emr-76551
ABSTRACT
Herein, we describe the molecular defects in the Norrie disease [ND] gene in a Kuwaiti Bedouin family with three affected sibs. Norrie disease is a rare X-linked recessive disorder, characterized by congenital blindness, malformed retina, psychomotor delay and deafness in a proportion of patients. We analyzed the genomic DNA through polymerase chain reaction [PCR] and restriction fragment length polymorphism [PCR-RFLP] approach. We have found the presence of R121W mutation within exon 3. We have identified a single base pair substitution [C>T] mutation of ND gene
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Psychomotor Disorders
/
Polymerase Chain Reaction
/
DNA Fingerprinting
/
Mutation, Missense
/
Deafness
/
Genes, Recessive
Type of study:
Case report
Limits:
Humans
/
Male
Language:
English
Journal:
Egypt. J. Med. Hum. Genet.
Year:
2006
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