TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

doi:10.1016/j.ajhg.2022.10.007

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

Community

Back to search

Article

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

American journal of human genetics - 1 Dec 2022

Hijazi Hadia, Reis Linda M, Pehlivan Davut, Bernstein Jonathan A, Muriello Michael, Syverson Erin, Bonner Devon, Estiar Mehrdad A, Gan-Or Ziv, Rouleau Guy A, Lyulcheva Ekaterina, Greenhalgh Lynn, Tessarech Marine, Colin Estelle, Guichet Agnès, Bonneau Dominique, van Jaarsveld R H, Lachmeijer A M A, Ruaud Lyse, Levy Jonathan, Tabet Anne-Claude, Ploski Rafal, Rydzanicz Małgorzata, Kępczyński Łukasz, Połatyńska Katarzyna, Li Yidan, Fatih Jawid M, Marafi Dana, Rosenfeld Jill A, Coban-Akdemir Zeynep, Bi Weimin, Gibbs Richard A, Hobson Grace M, Hunter Jill V, Carvalho Claudia M B, Posey Jennifer E, Semina Elena V, Lupski James R

Abstract excerpt

An Xq22.2 region upstream of PLP1 has been proposed to underly a neurological disease trait when deleted in 46,XX females. Deletion mapping revealed that heterozygous deletions encompassing the smallest region of overlap (SRO) spanning six Xq22.2 genes (BEX3, RAB40A, TCEAL4, TCEAL3, TCEAL1, and MORF4L2) associate with an early-onset neurological disease trait (EONDT) consisting of hypotonia, intellectual...

Read the complete abstract on PubMed

Topics

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Autistic Disorder

Share to DNA-Binding Proteins

Share to PLP1 gene

Share to Intellectual Disability

Share to Muscle Hypotonia

Share to Phenotype

Share to Syndrome

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 36368327
DOI: 10.1016/j.ajhg.2022.10.007
PMCID: PMC9748253

Genes

TCEAL1
TCEAL3
TCEAL4
BEX3
MORF4L2
PLP1
RAB40A

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

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.PMID 36368327Read ↗

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.Semantic proximity Read ↗

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.Semantic proximity Read ↗

IQSEC2 and X-linked syndromal intellectual disability.Semantic proximity Read ↗

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.Semantic proximity Read ↗

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.Semantic proximity Read ↗

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.Semantic proximity Read ↗

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.Semantic proximity Read ↗

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.Semantic proximity Read ↗

A novel ARX loss of function variant in female monozygotic twins is associated with chorea.Semantic proximity Read ↗

Whole-genome Sequencing Reveals De-novo Mutations Associated with Nonsyndromic Cleft Lip/PalateSemantic proximity Read ↗

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and StrabismusSemantic proximity Read ↗

Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.Semantic proximity Read ↗

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