What question did this study set out to answer?

To report a novel homozygous mutation in the cep57 gene associated with mosaic variegated aneuploidy syndrome 2.

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report

View Full Paper

Ask AI

Bookmark

Authors

Case report reveals a novel cep57 mutation causing mosaic variegated aneuploidy syndrome 2, suggesting new genetic insights.

To report a novel homozygous mutation in the cep57 gene associated with mosaic variegated aneuploidy syndrome 2.
Genetic testing including karyotype, array-CGH, and Silver–Russell syndrome screening.
Whole exome sequencing to identify mutations.
Familial segregation analysis to confirm inheritance patterns.
Identification of a likely pathogenic homozygous c.834_844dupCAATGTTCAGC variant in the cep57 gene.
Affected individual displayed severe short stature and facial dysmorphism.
Mild intellectual disability developed despite initially normal neurodevelopment.

Viudes et al. (2026) studied this question.

View Full Paper

Ask AI

Bookmark

View Full Paper

Ask AI

Bookmark

Authors

Case report reveals a novel cep57 mutation causing mosaic variegated aneuploidy syndrome 2, suggesting new genetic insights.

To report a novel homozygous mutation in the cep57 gene associated with mosaic variegated aneuploidy syndrome 2.
Genetic testing including karyotype, array-CGH, and Silver–Russell syndrome screening.
Whole exome sequencing to identify mutations.
Familial segregation analysis to confirm inheritance patterns.
Identification of a likely pathogenic homozygous c.834_844dupCAATGTTCAGC variant in the cep57 gene.
Affected individual displayed severe short stature and facial dysmorphism.
Mild intellectual disability developed despite initially normal neurodevelopment.

Viudes et al. (2026) studied this question.

View Full Paper

Ask AI

Bookmark