ArticleEuropean journal of human genetics : EJHG2022
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome.
Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Post-translational modification of proteins in the human testis development pathway.Human reproduction update · 2026Review
- Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in theMolecular syndromology · 2025Article
- Hypothalamic Hamartomas: A Narrative Review.Biomedicines · 2025Review
- Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.American journal of medical genetics. Part A · 2023Article
- Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.Human molecular genetics · 2022Article
- Good genotype-phenotype relationships in rare disease are hard to find.European journal of human genetics : EJHG · 2022Article
- Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO).Frontiers in genetics · 2022Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
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Abstract
Pallister-Hall syndrome, typically caused by germline or de novo variants within the GLI3 gene, has key features of hypothalamic hamartoma and polydactyly. Recently, a few similar cases have been described with bi-allelic SMO variants. We describe two siblings born to non-consanguineous unaffected parents presenting with hypothalamic hamartoma, post-axial polydactyly, microcephaly amongst other developmental anomalies. Previous clinical diagnostic exome analysis had excluded a pathogenic variant in GLI3. We performed exome sequencing re-analysis and identified bi-allelic SMO variants including a missense and synonymous variant in both affected siblings. We functionally characterised this synonymous variant showing it induces exon 8 skipping within the SMO transcript. Our results confirm bi-allelic SMO variants as an uncommon cause of Pallister-Hall syndrome and describe a novel exon-skipping mechanism, expanding the molecular architecture of this new clinico-molecular disorder.
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