A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

doi:10.1016/j.ajhg.2016.04.007

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

American journal of human genetics - 2 Jun 2016

Twigg Stephen R F, Hufnagel Robert B, Miller Kerry A, Zhou Yan, McGowan Simon J, Taylor John, Craft Jude, Taylor Jenny C, Santoro Stephanie L, Huang Taosheng, Hopkin Robert J, Brady Angela F, Clayton-Smith Jill, Clericuzio Carol L, Grange Dorothy K, Groesser Leopold, Hafner Christian, Horn Denise, Temple I Karen, Dobyns William B, Curry Cynthia J, Jones Marilyn C, Wilkie Andrew O M

Abstract excerpt

Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. Cerebellar medulloblastoma has been described in a single affected individual; in another, biopsy of skin lesions showed features of trichoblastoma. The...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Craniofacial Abnormalities

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

Share to Infant

Share to Infant, Newborn

Share to Intestines

Share to Signal Transduction

Share to Skin Abnormalities

Share to Smoothened Receptor

Share to Syndactyly

Source

Open in PubMed Open full text

Identifiers

PMID: 27236920
DOI: 10.1016/j.ajhg.2016.04.007
PMCID: PMC4908219

Genes

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.PMID 27236920Read ↗

Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome.Semantic proximity Read ↗

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.Semantic proximity Read ↗

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.Semantic proximity Read ↗

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.Semantic proximity Read ↗

A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours.Semantic proximity Read ↗

Mutations in SUFU predispose to medulloblastoma.Semantic proximity Read ↗

Somatic mutations of WNT/wingless signaling pathway components in primitive neuroectodermal tumors.Semantic proximity Read ↗

A variant in <i>SMOC2,</i> inhibiting BMP signaling by competitively binding to BMPR1B, causes multiple epiphyseal dysplasiaSemantic proximity Read ↗

BOC is a modifier gene in holoprosencephaly.Semantic proximity Read ↗

Activating Smoothened mutations in sporadic basal-cell carcinoma.Semantic proximity Read ↗

Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes.Semantic proximity Read ↗

GLI3 is not mutated commonly in sporadic medulloblastomas.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.