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

Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?

American journal of medical genetics. Part A - 1 May 2025

Mastromoro Gioia, Guadagnolo Daniele, Gianno Francesca, Khaleghi Hashemian Nader, Terracciano Alessandra, Bernardini Laura, Giancotti Antonella, Novelli Antonio, Piacentini Gerardo, Di Gioia Cira, Pizzuti Antonio

Abstract excerpt

TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations. The parents, a consanguineous couple of first cousins, were...

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 Heart Defects, Congenital

Share to Homozygote

Share to Neurodevelopmental Disorders

Share to Pedigree

Share to Pregnancy

Share to Protein Serine-Threonine Kinases

Source

Identifiers

PMID: 39865381
DOI: 10.1002/ajmg.a.64001

Genes

TBCK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?PMID 39865381Read ↗

Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.Semantic proximity Read ↗

Identification of a Novel TBCK Variation in an Azari Consanguineous Family With Psychomotor Developmental Disorder.Semantic proximity Read ↗

Expanding the phenotype of TAB2 variants and literature review.Semantic proximity Read ↗

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report.Semantic proximity Read ↗

TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.Semantic proximity Read ↗

PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.Semantic proximity Read ↗

Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.Semantic proximity Read ↗

CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.Semantic proximity Read ↗

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.Semantic proximity Read ↗

TBCK-related intellectual disability syndrome: Case study of two patients.Semantic proximity Read ↗

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.Semantic proximity Read ↗

Genetics and cardiac anomalies: the heart of the matter.Semantic proximity Read ↗

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