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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred

Fig. 1

Pedigree of the studied kindred and the MC4R mutation. a Pedigree of a consanguineous Bedouin family presenting with a phenotype of autosomal recessive early-onset obesity (individuals with phenotypic morbid obesity are marked as affected; asterisk marks individuals whose DNA was available for analysis). b The c.124Ā Gā€‰>ā€‰T, p.(E42*) MC4R mutation: Sanger sequencing of an unaffected individual (III:7), an obligatory carrier (II:5) and a morbidly-obese affected individual (IV:1). c Schematic representation of the p.(E42*) mutation in MC4R predicted to truncate almost 90% of the protein (TM, Transmembrane domain)

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