Download Missense Mutation R121W in the Norrie Disease Gene in Kuwaiti

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The Egyptian Journal of Medical Human Genetics, Vol. 7, (1): 83–88, May 2006
Missense Mutation R121W in the Norrie Disease Gene
in Kuwaiti Bedouin Family
Rezk L Alnaggar, Sadika A Alawadi, Fatma Higazi, Hutham Al-Khrafie, Laila A
Bastaki
Kuwait Medical Genetics Center (KMGC) P.O. Box 31121/80901 Sulibikhat, Tel: +9654814328, Fax:
+9654842073, E-mail: [email protected]
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 (PCRRFLP) 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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