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Article

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.

Clinical genetics - 1 Oct 2026

Alharbi Wafaa, Peer-Zada Abdul A, Alaqidi Abeer S, Collet Corinne, Coulon Capucine, Mushiba Aziza, Petit Florence

Abstract excerpt

Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi-scapular dysplasia and craniofacial dysmorphism, due to biallelic pathogenic variants in the TBX15 gene. So far, only six molecularly confirmed cases have been reported in the literature. Herein, we report three novel individuals from two unrelated families carrying homozygous novel variants in the TBX15 gene causing...

Read the complete abstract on PubMed

Topics

Humans
T-Box Domain Proteins
Female
Phenotype
Male
Abnormalities, Multiple
Pedigree

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Craniofacial Abnormalities

Intellectual Disability

Child

Genetic Predisposition to Disease

Child, Preschool

Source

Open in PubMed Open full text

Identifiers

PMID: 42324217
DOI: 10.1111/cge.70198
PMCID: PMC13533864

Genes

TBX15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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