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

Novel TMEM53 missense variant generated a new ubiquitination site and cause Craniotubular dysplasia, Ikegawa type.

Human molecular genetics - 3 Sept 2025

Peng Ying, Wan Zhengqing, Li Kai, Liu Zhen, Chen Jing, Hu Ai, Wang Silong, Liu Rui, Li Bo, Mao Xiao, Wu Ming

Abstract excerpt

Genetic mutations in the TMEM53 gene have been linked to Craniotubular Dysplasia, Ikegawa Type (CTDI). To elucidate the etiology in a consanguineous family exhibiting the typical clinical phenotype of CTDI, trio whole exome sequencing (Trio-WES) was conducted, and a homozygous missense variant in the TMEM53 gene (NM_024587.4: c.634G > A: p.E212K) was identified. Both cellular experiments and patient blood sample...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Membrane Proteins

Share to Mutation, Missense

Share to Pedigree

Share to Protein Processing, Post-Translational

Share to Ubiquitination

Source

Identifiers

PMID: 40680154
DOI: 10.1093/hmg/ddaf121

Genes

TMEM53

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel TMEM53 missense variant generated a new ubiquitination site and cause Craniotubular dysplasia, Ikegawa type.PMID 40680154Read ↗

A Novel <i>de novo TP63</i> Mutation in Whole Exome Sequencing of a Syrian Family with Oral Cleft and EctrodactylySemantic proximity Read ↗

A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.Semantic proximity Read ↗

TMEM53 as an outer nuclear membrane regulator of cranial and tubular bone formation in craniotubular dysplasia.Semantic proximity Read ↗

Spliceosomopathies and neurocristopathies: Two sides of the same coin?Semantic proximity Read ↗

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.Semantic proximity Read ↗

Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disorders.Semantic proximity Read ↗

Trim24 targets endogenous p53 for degradation.Semantic proximity Read ↗

A TP63 mutation identified in a Han Chinese family with ectodermal dysplasia.Semantic proximity Read ↗

Possible Involvement of Differential Ubiquitination as a Molecular Basis of Phenotypic Heterogeneity in Neurodevelopmental Disorders.Semantic proximity Read ↗

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.Semantic proximity Read ↗

A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.Semantic proximity Read ↗

A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish.Semantic proximity Read ↗

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