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Case Reports
. 2017 Jul;37(4):355-358.
doi: 10.3343/alm.2017.37.4.355.

Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency

Ana Gabriela Colima Fausto  1   2 , Juan Ramón González García  1 , Teresita De Jesús Hernández Flores  1   2 , Norma Alejandra Vázquez Cárdenas  3 , Nery Eduardo Solís Perales  4 , María Teresa Magaña Torres  1   5
Affiliations
Case Reports

Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency

Ana Gabriela Colima Fausto et al. Ann Lab Med. 2017 Jul.
No abstract available

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Conflict of interest statement

No potential conflicts of interest relevant to this article were reported.

Figures

Fig. 1
Fig. 1. Familial pedigree and DNA sequencing results. (A) Pedigree constructed through personal interviews. Index case's parents (IV-5 and IV-17) are consanguineous, sharing a common ancestor three generations back. Eleven relatives of the index case were heterozygous for p.Gly188Glu LPL mutation. Individuals I-2, II-2, II-3, III-3, and III-7 were not studied, but they were obligate carriers of the p.Gly188Glu mutation. Electropherograms from IV-2, IV-17, and V-5 showed the three possible genotypes, (B) wild-type homozygote p.Gly188Gly, (C) heterozygote, and (D) mutant homozygote p.Glu188Glu, respectively.
Abbreviation: aa, amino acid.
See this image and copyright information in PMC

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References

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