Novel variants in the SOX11 gene: clinical description of seven new patients.

doi:10.1038/s41431-024-01695-8

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

Novel variants in the SOX11 gene: clinical description of seven new patients.

European journal of human genetics : EJHG - 1 Dec 2024

Schincariol-Manhe Beatriz, Campagnolo Érica, Spineli-Silva Samira, de Leeuw Nicole, Correia-Costa Gabriela Roldão, Pessoa André, de Souza Carolina Fischinger Moura, Stevens Cathy, Javaher Poupak, Scallet Helena Fabbri, Mohr Julia, Biskup Saskia, Herkert Johanna C, Pfundt Rolph, Mehta Lakshmi, Rekab Aisha, Elloumi Houda Zghal, Sanyoura May, Maciel-Guerra Andréa Trevas, Gil-da-Silva-Lopes Vera Lúcia, Dos Santos Ana Mondadori, Vieira Társis Paiva

Abstract excerpt

Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo SOX11 variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants. The main clinical...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypogonadism

Share to Adolescent

Share to Child

Share to Intellectual Disability

Share to Microcephaly

Share to Mutation, Missense

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 39333428
DOI: 10.1038/s41431-024-01695-8
PMCID: PMC11607427

Genes

SOX11

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

Novel variants in the SOX11 gene: clinical description of seven new patients.PMID 39333428Read ↗

Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadismSemantic proximity Read ↗

A de novo SOX11 mutation causing hypogonadotropic hypogonadism: a case report and literature review.Semantic proximity Read ↗

SOX2 heterozygous mutation causes multiple extra-ocular phenotypes in boysSemantic proximity Read ↗

Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Semantic proximity Read ↗

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research studySemantic proximity Read ↗

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.Semantic proximity Read ↗

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.Semantic proximity Read ↗

Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by SOX10 gene deletion.Semantic proximity Read ↗

SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseSemantic proximity Read ↗

The evolving role of whole-exome sequencing in the management of disorders of sex developmentSemantic proximity Read ↗

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.Semantic proximity Read ↗

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.Semantic proximity Read ↗

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