Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1D

Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterised by variable expressivity. It is caused by pathogenic variants in the TCOF1, POLR1D, POLR1C, or POLR1B genes. Common clinical features include hypoplasia of the zygomatic complex and mandible, downward‐slanting palpebral fissures, lower eyelid...

Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation‐Region Frameshift Variant

Familial cerebral cavernous malformation is an autosomal dominant vascular disorder with age‐dependent penetrance and marked intrafamilial variability and genotype–phenotype correlations remain limited.

A Novel Homozygous Frameshift Variant in ZNF699 Associated With DEGCAGS Syndrome With Severe Transfusion‐Dependent Anemia in an Indian Child: A Case Report

ABSTRACT In children with unexplained multisystem involvement—global developmental delay, dysmorphism, skeletal anomalies, and severe transfusion‐dependent anemia—especially from consanguineous families, whole‐exome sequencing should be pursued early to enable timely diagnosis, proactive iron chelation, and genetic cou...

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA Analysis

The findings expand the phenotypic spectrum of VPS41‐related disease and highlight the value of long‐read allelic resolution in clarifying pathogenic mechanisms in rare genetic disorders.

Whole‐Exome Sequencing Identifies Novel CPAMD8 Variants in Congenital Cataract and Candidate Variants in Pathologic Myopia

To report CPAMD8 variants identified by whole‐exome sequencing (WES) in two Chinese families presenting with congenital cataract or pathologic myopia (PM) and to evaluate the evidence supporting their genotype–phenotype relationships.

Short Report Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population