Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy

American Journal of Medical Genetics, Part A

Volumn 173, Issue 1, 2017, Pages 190-194

  Zolotov, Sagit ^a   Xing, Chao ^b   Mahamid, Riad ^a   Shalata, Adel ^c   Sheikh Ahmad, Mohammed ^c   Garg, Abhimanyu ^d  

^a INSTITUTE OF ENDOCRINOLOGY   (Israel)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c BNAI ZION MEDICAL CENTER   (Israel)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

hormone sensitive lipase; insulin resistance; lipodystrophy; multiple symmetric lipomatosis; myopathy

Indexed keywords

CREATINE KINASE; GLUTAMIC ACID; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HORMONE SENSITIVE LIPASE; BIOLOGICAL MARKER; CHOLESTEROL ESTERASE;

ADULT; ADULTHOOD; ARAB; ARTICLE; AXILLA; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 19; CREATINE KINASE BLOOD LEVEL; EXOME; FACE; FEMALE; GENE MUTATION; GENE SEQUENCE; HOMOZYGOTE; HUMAN; HYPERTRIGLYCERIDEMIA; ISRAEL; LEG; LIPE GENE; LIPODYSTROPHY; LIPOMATOSIS; MALE; MULTIPLE SYMMETRIC LIPOMATOSIS; MYOPATHY; NECK; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SIBLING; SUBCUTANEOUS FAT; TRUNK; AGED; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; LIPOMATOSIS, MULTIPLE SYMMETRICAL; METABOLISM; MIDDLE AGED; MUSCULAR DISEASES; MUTATION; PHENOTYPE; YOUNG ADULT;

ADULT; AGED; BIOMARKERS; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HOMOZYGOTE; HUMANS; LIPODYSTROPHY; LIPOMATOSIS, MULTIPLE SYMMETRICAL; MALE; MIDDLE AGED; MUSCULAR DISEASES; MUTATION; PEDIGREE; PHENOTYPE; SIBLINGS; STEROL ESTERASE; YOUNG ADULT;

EID: 84999622491     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37880     Document Type: Article

References (7)

1. Albert JS, Yerges-Armstrong LM, Horenstein RB, Pollin TI, Sreenivasan UT, Chai S, Blaner WS, Snitker S, O'Connell JR, Gong DW, Breyer RJ, 3rd, Ryan AS, McLenithan JC, Shuldiner AR, Sztalryd C, Damcott CM. 2014. Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes. N Engl J Med 370:2307–2315.
2. Carboni N, Brancati F, Cocco E, Solla E, D'Apice MR, Mateddu A, McIntyre A, Fadda E, Mura M, Lattanzi G, Piras R, Maioli MA, Marrosu G, Novelli G, Marrosu MG, Hegele RA. 2014. Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin. Muscle Nerve 49:928–930.
3. Farhan SM, Robinson JF, McIntyre AD, Marrosu MG, Ticca AF, Loddo S, Carboni N, Brancati F, Hegele RA. 2014. A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. Can J Cardiol 30:1649–1654.
4. Garg A. 2011. Clinical review#: Lipodystrophies: Genetic and acquired body fat disorders. J Clin Endocrinol Metab 96:3313–3325.
5. Giuseppe M, Luigia M, Elena P, Yan F, Luigi M. 2012. Enzyme promiscuity in the hormone-sensitive lipase family of proteins. Protein Pept Lett 19:144–154.
6. Osuga J, Ishibashi S, Oka T, Yagyu H, Tozawa R, Fujimoto A, Shionoiri F, Yahagi N, Kraemer FB, Tsutsumi O, Yamada N. 2000. Targeted disruption of hormone-sensitive lipase results in male sterility and adipocyte hypertrophy, but not in obesity. Proc Natl Acad Sci USA 97:787–792.
7. Patni N, Garg A. 2015. Congenital generalized lipodystrophies-new insights into metabolic dysfunction. Nat Rev Endocrinol 11:522–534.