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

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.

American journal of human genetics - 6 Oct 2022

Huang Yan, Lemire Gabrielle, Briere Lauren C, Liu Fang, Wessels Marja W, Wang Xueqi, Osmond Matthew, Kanca Oguz, Lu Shenzhao, High Frances A, Walker Melissa A, Rodan Lance H, Kernohan Kristin D, Sweetser David A, Boycott Kym M, Bellen Hugo J

Abstract excerpt

MTSS2, also known as MTSS1L, binds to plasma membranes and modulates their bending. MTSS2 is highly expressed in the central nervous system (CNS) and appears to be involved in activity-dependent synaptic plasticity. Variants in MTSS2 have not yet been associated with a human phenotype in OMIM. Here we report five individuals with the same heterozygous de novo variant in MTSS2 (GenBank: NM_138383.2: c.2011C>T...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Complementary
Share to Drosophila

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Membrane Proteins

Share to Microcephaly

Share to Microfilament Proteins

Share to Mutation, Missense

Share to Nervous System Malformations

Source

Open in PubMed Open full text

Identifiers

PMID: 36067766
DOI: 10.1016/j.ajhg.2022.08.011
PMCID: PMC9606386

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.PMID 36067766Read ↗

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.Semantic proximity Read ↗

MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype.Semantic proximity Read ↗

MTSS1: beyond the integration of actin and membrane dynamicsSemantic proximity Read ↗

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.Semantic proximity Read ↗

Loss-of-function variants in MARK2 cause neurodevelopmental disorder.Semantic proximity Read ↗

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.Semantic proximity Read ↗

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.Semantic proximity Read ↗

A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.Semantic proximity Read ↗

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.Semantic proximity Read ↗

Expanding the genotype and phenotype spectrum of <i>SYT1</i>-associated neurodevelopmental disorderSemantic proximity Read ↗

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.Semantic proximity Read ↗

Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology.Semantic proximity Read ↗

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