ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

doi:10.1093/hmg/ddv208

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

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

Human molecular genetics - 1 Sept 2015

May Melanie, Hwang Kyu-Seok, Miles Judith, Williams Charlie, Niranjan Tejasvi, Kahler Stephen G, Chiurazzi Pietro, Steindl Katharina, Van Der Spek Peter J, Swagemakers Sigrid, Mueller Jennifer, Stefl Shannon, Alexov Emil, Ryu Jeong-Im, Choi Jung-Hwa, Kim Hyun-Taek, Tarpey Patrick, Neri Giovanni, Holloway Lynda, Skinner Cindy, Stevenson Roger E, Dorsky Richard I, Wang Tao, Schwartz Charles E, Kim Cheol-Hee

Abstract excerpt

Miles-Carpenter syndrome (MCS) was described in 1991 as an XLID syndrome with fingertip arches and contractures and mapped to proximal Xq. Patients had microcephaly, short stature, mild spasticity, thoracic scoliosis, hyperextendable MCP joints, rocker-bottom feet, hyperextended elbows and knees. A mutation, p.L66H, in ZC4H2, was identified in a XLID re-sequencing project. Additional screening of linked families...

Read the complete abstract on PubMed

Topics

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

Share to Central Nervous System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chlorocebus aethiops

Share to COS Cells

Share to Genes, X-Linked

Share to Interneurons

Share to Intracellular Signaling Peptides and Proteins

Share to Organ Specificity

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 26056227
DOI: 10.1093/hmg/ddv208
PMCID: PMC4527488

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

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.PMID 26056227Read ↗

Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.Semantic proximity Read ↗

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.Semantic proximity Read ↗

Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene.Semantic proximity Read ↗

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSemantic proximity Read ↗

ZC4H2 loss of function is associated with temporal dysregulation of neural stem proliferation and neuron developmentSemantic proximity Read ↗

The X-Linked Intellectual Disability gene, ZDHHC9 , is important for oligodendrocyte subtype determination and myelinationSemantic proximity Read ↗

Genotype-Phenotype Correlations and Sex Differences in ZC4H2-Associated Rare Disorder.Semantic proximity Read ↗

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorderSemantic proximity Read ↗

A novel ZC4H2 variant in a female with severe respiratory complications.Semantic proximity Read ↗

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.Semantic proximity Read ↗

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.Semantic proximity Read ↗

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.Semantic proximity Read ↗

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