Evidence map›Paper›PMID 34033296›Full record

ArticleArchives of endocrinology and metabolism2021

Targeted massively parallel sequencing for congenital generalized lipodystrophy.

Aline D Costa-Riquetto, Lucas S Santana, Lílian A Caetano, Antônio M Lerário, Joya E M Correia-Deur, Débora R Bertola, Chong A Kim, Márcia Nery, Alexander A L Jorge, Milena G Teles

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Archives of endocrinology and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 92% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 3 institutions in 4 countries.

Aline D Costa-RiquettoGrupo de Diabetes Monogênico, Unidade de Endocrinologia Genética/Laboratório de Investigação Médica (LIM/25) e Unidade de Diabetes, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Lucas S SantanaGrupo de Diabetes Monogênico, Unidade de Endocrinologia Genética/Laboratório de Investigação Médica (LIM/25) e Unidade de Diabetes, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Lílian A CaetanoGrupo de Diabetes Monogênico, Unidade de Endocrinologia Genética/Laboratório de Investigação Médica (LIM/25) e Unidade de Diabetes, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Antônio M LerárioUnidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular/Laboratório de Investigação Médica (LIM/25), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil; Departamento de Medicina Interna, Divisão de Metabolismo, Endocrinologia e Diabetes, Universidade de Michigan, Ann Arbor, MI, USA.
Joya E M Correia-DeurUnidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular/Laboratório de Investigação Médica (LIM25), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Débora R BertolaUnidade de Genética, Instituto da Criança, Universidade de São Paulo, São Paulo, SP, Brasil.
Chong A KimUnidade de Genética, Instituto da Criança, Universidade de São Paulo, São Paulo, SP, Brasil.
Márcia NeryUnidade de Diabetes, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Alexander A L JorgeUnidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular/Laboratório de Investigação Médica (LIM25), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Milena G TelesGrupo de Diabetes Monogênico, Unidade de Endocrinologia Genética/Laboratório de Investigação Médica (LIM/25) e Unidade de Diabetes, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil, milena.teles@usp.br.
Diabetes Australia · AUUniversidade de São Paulo · BRHospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveOur aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS).

methodsNine 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.

resultsAn accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in

conclusionAlthough 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.

Indexed as

GTP-Binding Protein gamma SubunitsLipodystrophyLipodystrophy, Congenital GeneralizedAllelesHigh-Throughput Nucleotide SequencingHumansMutationBSCL2 protein, humanGTP-Binding Protein gamma SubunitsBerardinelli-Seip syndromeCongenital generalized lipodystrophydeep sequencingmassively parallel sequencing

Identifiers

PMID34033296
PMCPMC10118969
OpenAlexW3082388066

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.