BMC Pediatrics· 2026Q1
Broadening the phenotypic and genetic spectrum of ERBB2-associated multisystem congenital disorder
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- 2026year
Short summary
A patient with novel compound heterozygous variants in ERBB2 (c.1018C>T and c.3412+1_3412+13del) presents with a complex congenital phenotype, expanding the known genetic and clinical spectrum of ERBB2-related disorders.
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Key points
- A patient with compound heterozygous ERBB2 variants (c.1018C>T and c.3412+1_3412+13del) is described.
- The patient presented at birth with hypotonia, talipes equinovarus, adducted thumbs, camptodactyly, and craniofacial dysmorphism.
- Clinical course included delayed motor/speech milestones, abnormal gait, chronic constipation, and required multiple orthopedic/ophthalmologic surgeries.
- Cognitive development was preserved in this case.
AI-generated from the title and abstract; the full text is not read.
Abstract
ERBB2 has been implicated in rare multisystem developmental disorders, with only two siblings carrying a homozygous missense variant reported to date. We describe an additional patient with a complex congenital phenotype and novel compound heterozygous variants in ERBB2 : c.1018C>T (p.Arg340Ter) and c.3412+1_3412+13del (p.?). A 7-year-old male presented at birth with hypotonia, bilateral talipes equinovarus, adducted thumbs, camptodactyly of the index fingers, and craniofacial dysmorphic features. His clinical course included delayed motor and speech milestones, abnormal gait, and chronic constipation requiring long-term laxative use. The patient underwent multiple orthopedic and ophthalmologic surgeries and continues with supportive therapies. Cognitive development remains preserved. This case represents the possible phenotypic extension and contributes to the expanding genetic spectrum of ERBB2-related disorders. Not applicable.
The authors' abstract, as published at the source. BMC Pediatrics, 2026 · DOI ↗
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Developmental BiologyBiochemistry, Genetics and Molecular Biology