Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant.

The Journal of clinical investigation - 1 Dec 2022

Garg Abhimanyu, Keng Wee-Teik, Chen Zhenkang, Sathe Adwait Amod, Xing Chao, Kailasam Pavithira Devi, Shao Yanqiu, Lesner Nicholas P, Llamas Claire B, Agarwal Anil K, Mishra Prashant

Abstract excerpt

Multiple genetic loci have been reported for progeroid syndromes. However, the molecular defects in some extremely rare forms of progeria have yet to be elucidated. Here, we report a 21-year-old man of Chinese ancestry who has an autosomal recessive form of progeria, characterized by severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy. Analyses of exome sequencing data from the entire...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Exome
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipodystrophy

Share to Membrane Proteins

Share to Mitochondrial Precursor Protein Import Complex Proteins

Share to Mitochondrial Proteins

Share to Progeria

Share to Proteomics

Source

Open in PubMed Open full text

Identifiers

PMID: 36282599
DOI: 10.1172/JCI156864
PMCID: PMC9711873

Genes

TOMM7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant.PMID 36282599Read ↗

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.Semantic proximity Read ↗

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.Semantic proximity Read ↗

The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.Semantic proximity Read ↗

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.Semantic proximity Read ↗

Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophySemantic proximity Read ↗

LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.Semantic proximity Read ↗

A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes.Semantic proximity Read ↗

A multiparametric anti-aging CRISPR screen uncovers a role for BAF in protein translationSemantic proximity Read ↗

The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.Semantic proximity Read ↗

Hutchinson-Gilford progeria syndrome: review of the phenotype.Semantic proximity Read ↗

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.Semantic proximity Read ↗

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.