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A novel mutation in the leptin gene (W121X) in an Egyptian family

View Article: PubMed Central - PubMed

ABSTRACT

Congenital leptin deficiency is a rare recessively inherited condition due to homozygous mutations in the LEP gene. To date, only nine mutations have been identified in the LEP gene (p.L72S, p.N103K, p.R105W, p.H118L, p.S141C, c.104_106delTCA, c.135del3bp, c.398delG and c.481_482delCT). In this study we present a novel homozygous nonsense mutation (W121X) in LEP in a twelve year old obese male and his severely obese sister. As this disorder is treatable with recombinant leptin, it is intriguing to report a novel homozygous nonsense mutation in LEP in two obese children of consanguineous parents. These patients showed features in accordance with leptin deficiency.

No MeSH data available.


Direct sequencing of PCR-amplified products of exon 3 of the LEP gene revealed a nonsense mutation p.Trp121X (TGG to TAG).
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f0010: Direct sequencing of PCR-amplified products of exon 3 of the LEP gene revealed a nonsense mutation p.Trp121X (TGG to TAG).

Mentions: Plasma leptin levels were undetectable in these children. Direct sequencing of the LEP gene in the two affected sibs disclosed a novel homozygous nonsense mutation p.Trp121X (TGG to TAG) in exon 3 of the LEP gene (Fig. 2). Sequencing analysis of parental DNA revealed that the mutation was present in heterozygous form in both parents. The mutation was not detected in 100 alleles of 50 healthy Egyptian children and is likely to yield a truncated protein (due to nonsense-mediated mRNA decay), that is not secreted.


A novel mutation in the leptin gene (W121X) in an Egyptian family
Direct sequencing of PCR-amplified products of exon 3 of the LEP gene revealed a nonsense mutation p.Trp121X (TGG to TAG).
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5121350&req=5

f0010: Direct sequencing of PCR-amplified products of exon 3 of the LEP gene revealed a nonsense mutation p.Trp121X (TGG to TAG).
Mentions: Plasma leptin levels were undetectable in these children. Direct sequencing of the LEP gene in the two affected sibs disclosed a novel homozygous nonsense mutation p.Trp121X (TGG to TAG) in exon 3 of the LEP gene (Fig. 2). Sequencing analysis of parental DNA revealed that the mutation was present in heterozygous form in both parents. The mutation was not detected in 100 alleles of 50 healthy Egyptian children and is likely to yield a truncated protein (due to nonsense-mediated mRNA decay), that is not secreted.

View Article: PubMed Central - PubMed

ABSTRACT

Congenital leptin deficiency is a rare recessively inherited condition due to homozygous mutations in the LEP gene. To date, only nine mutations have been identified in the LEP gene (p.L72S, p.N103K, p.R105W, p.H118L, p.S141C, c.104_106delTCA, c.135del3bp, c.398delG and c.481_482delCT). In this study we present a novel homozygous nonsense mutation (W121X) in LEP in a twelve year old obese male and his severely obese sister. As this disorder is treatable with recombinant leptin, it is intriguing to report a novel homozygous nonsense mutation in LEP in two obese children of consanguineous parents. These patients showed features in accordance with leptin deficiency.

No MeSH data available.