Targeted massively parallel sequencing for congenital generalized lipodystrophy

被引：1

作者：

Costa-Riquetto, Aline D. ^{[1
,2
]}

Santana, Lucas S. ^{[1
,2
]}

Caetano, Lilian A. ^{[1
,2
]}

Lerario, Antonio M. ^{[3
,4
]}

Correia-Deur, Joya E. M. ^{[3
]}

Bertola, Debora R. ^{[5
]}

Kim, Chong A. ^{[5
]}

Nery, Marcia ^{[2
]}

Jorge, Alexander A. L. ^{[3
]}

Teles, Milena G. ^{[1
,2
]}

机构：

[1] Univ Sao Paulo, Grp Diabet Monogen, Unidade Endocrinol Genet, Lab Invest Med LIM 25, Av Dr Arnaldo 455,5 Andar,Sala 5340, BR-01246903 Sao Paulo, SP, Brazil

[2] Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Diabet, Av Dr Arnaldo 455,5 Andar,Sala 5340, BR-01246903 Sao Paulo, SP, Brazil

[3] Univ Sao Paulo, Unidade Endocrinol Genet, Lab Endocrinol Celular & Mol, Lab Invest Med LIM 25,Hosp Clin,Fac Med, Sao Paulo, SP, Brazil

[4] Univ Michigan, Dept Med Interna, Div Metabolismo Endocrinol & Diabet, Ann Arbor, MI 48109 USA

[5] Univ Sao Paulo, Inst Crianca, Unidade Genet, Sao Paulo, SP, Brazil

来源：

ARCHIVES OF ENDOCRINOLOGY METABOLISM | 2020年 / 64卷 / 05期

基金：

巴西圣保罗研究基金会;

关键词：

Congenital generalized lipodystrophy; Berardinelli-Seip syndrome; massively parallel sequencing; deep sequencing; MUTATIONS; AGPAT2; VARIANTS; DNA;

D O I：

10.20945/2359-3997000000278

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective. Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated, sequenced using the Illumina MiSeq, and bioinformatics analysis was performed. Results: An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in AGPAT2 and three in BSCL2. Three large homozygous deletions in AGPAT2 were identified by copy-number variant analysis. Conclusions: Although we have found allelic variants in only 2 genes related to CGL, the panel was able to identify different variants including deletions that would have been missed by Sanger sequencing. We believe that MPS is a valuable tool for the genetic diagnosis of multi-genes related diseases, including CGL.

引用

页码：559 / 566

页数：8

共 24 条

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