A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation.

Shipeng Huang, Yan Zhang, Zuan Zhan, Shuhao Gong

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Article in Journal of diabetes investigation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

0.2field-weighted citation impact, top 42% of its field

1 · What the graph read from it

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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.

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0 citing papers in PubMed, 1 citations in OpenAlex.

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5 · Who and what money

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4 authors at 1 institution in 2 countries.

Shipeng HuangDepartment of Emergency, First Affiliated Hospital of Nanchang University, Nanchang, China.

Yan ZhangDepartment of Endocrinology and Metabolism, First Affiliated Hospital of Nanchang University, Nanchang, China.ORCID https://orcid.org/0009-0007-9991-0328

Zuan ZhanDepartment of Emergency, First Affiliated Hospital of Nanchang University, Nanchang, China.

Shuhao GongDepartment of Emergency, First Affiliated Hospital of Nanchang University, Nanchang, China.

Nanchang University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The term laminopathies refers to a group of congenital diseases characterized by accelerated degeneration of human tissues. Mutations in LMNA, LMNB, ZMPSTE24, and other genes lead to structural and functional abnormalities associated with lamins. One subtype of laminopathy is the generalized lipodystrophy-associated progeroid syndrome (GLPS), which occurs in patients with heterozygous mutations of the LMNA gene c.29C>T(p.T10I). This paper reports the first case of GLPS in China and compares the clinical features of other GLPS patients with literature reports. A 16-year-old male patient was treated for diabetic ketoacidosis, presenting with premature aging appearance, systemic lipodystrophy, severe fatty liver, and decreased bone density. After peripheral blood DNA extraction and second-generation sequencing, a heterozygous mutation of exon 1 of the LMNA gene c.29C>T(p.T10I) was detected. This case of GLPS may provide a diagnostic and therapeutic basis for potential patients.

Indexed as

LaminopathiesLipodystrophyLipodystrophy, Congenital GeneralizedProgeriaAdolescentHumansLamin Type AMaleMutationLamin Type ALMNA protein, humanCongenital GeneralizedDiabetes MellitusLaminopathiesLipoatrophicLipodystrophyProgeria Syndrome

Identifiers

PMID37448194

DOI10.1111/jdi.14055

PMCPMC10512909

OpenAlexW4384277317

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LicenceCC BY

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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.