لیپودیستروفی تعمیم یافته ی مادر زادی : شناسایی واریانت جدید و گسترش طیف بالینی

حقیقی, علیرضا and کاوه منش, زهره and حقیقی, امیر رضا and صالح زاده, فرهاد and سانتوز, ف and پاسکال, هیل برت (1394) لیپودیستروفی تعمیم یافته ی مادر زادی : شناسایی واریانت جدید و گسترش طیف بالینی. Clinical genetics ــ 88 (2). pp. 1-8. شاپا 9163-0009

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Official URL: http://onlinelibrary.wiley.com/journal/10.1111


Congenital Generalized Lipodystrophy: Identification of Novel Variants and Expansion of Clinical Spectrum

English 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 (5 patients) and in BSCL2 (5 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.

Item Type:Article
زبان سند : انگلیسی
نویسنده مسئول :علیرضا حقیقی
نویسنده :زهره کاوه منش
نویسنده :امیر رضا حقیقی
نویسنده :فرهاد صالح زاده
نویسنده :ف سانتوز
نویسنده :هیل برت پاسکال
Additional Information:Impact Factor:(2014)3.931 indexing in: ISI،Scopus
کلیدواژه ها (انگلیسی):AGPAT2; BSCL2; CGL1; CGL2; Congenital generalized lipodystrophy (CGL); Genotype-phenotype correlations; Novel variants
Subjects:QZ Pathology
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:6837
Deposited By: Engineer Alireza MohammadNia
Deposited On:01 May 1394 05:48
Last Modified:12 Oct 1394 05:37

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