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Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Show simple item record Haghighi, A. en_US Kavehmanesh, Z. en_US Haghighi, A. en_US Salehzadeh, F. en_US Santos-Simarro, F. en_US Van Maldergem, L. en_US Cimbalistiene, L. en_US Collins, F. en_US Chopra, M. en_US Al-Sinani, S. en_US Dastmalchian, S. en_US de Silva, D.C. en_US Bakhti, H. en_US Garg, A. en_US Hilbert, P. en_US 2015-08-20T08:57:07Z en_US 2015-08-20T08:57:07Z en_US 2016 en_US
dc.identifier.citation Clinical Genetics. 2016; 89(4): 431-44. en_US
dc.identifier.issn 0009-9163 (Print) en_US
dc.identifier.issn 399-0004 (Electronic) en_US
dc.identifier.issn 0009-9163 (Linking) en_US
dc.identifier.uri en_US
dc.description Indexed in MEDLINE en_US
dc.description.abstract Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more severe features. Muscle hypertrophy caused by lack of adipose tissue is present early in life in CGL patients. Our aim was to investigate 10 CGL patients from 7 different countries and report genotype-phenotype relationships. Genetic analysis identified disease-causing variants in AGPAT2 (five patients) and in BSCL2 (five patients), including three novel variants; c.134C>A (p.Ser45*), c.216C>G (p.Tyr72*) in AGPAT2 and c.458C>A (p.Ser153*) in BSCL2. We also report possible novel clinical features such as anemia, breast enlargement, steatorrhea, intraventricular hemorrhage and nephrolithiasis in CGL patients. Generalized lipodystrophy and muscular hypertrophy were the only features in all of our patients. Hepatomegaly was the second common feature. Some manifestations were exclusively noticed in our CGL2 patients; hypertrichosis, high-pitched voice and umbilical hernia. Bone cysts and history of seizures were noticed only in CGL1 patients. The findings of this study expand our knowledge of genotype-phenotype correlations in CGL patients. These results have important clinical applications in diagnosis and management of the CGL patients as well as in genetic counseling in families at-risk. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. en_US
dc.language.iso en_US en_US
dc.publisher John Wiley & Sons en_US
dc.subject Lipodystrophy, Congenital Generalized en_US
dc.subject.mesh Lipodystrophy, Congenital Generalized-genetics en_US
dc.subject.mesh Lipodystrophy, Congenital Generalized-diagnosis en_US
dc.subject.mesh Lipodystrophy, Congenital Generalized-blood en_US
dc.title Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. en_US
dc.type Article en_US

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