ArticleEuropean journal of human genetics : EJHG2009
PTCH1 duplication in a family with microcephaly and mild developmental delay.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 37 citations in OpenAlex.
- Defective Neural Stem and Progenitor Cell Proliferation in Neurodevelopmental Disorders.Journal of developmental biology · 2025Review
- Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes.Endocrine connections · 2025Article
- Whole-Genome Scanning for Selection Signatures Reveals Candidate Genes Associated with Growth and Tail Length in Sheep.Animals : an open access journal from MDPI · 2024Article
- Hedgehog Signaling in Cortical Development.Cells · 2023Review
- Review
- The epigenetic state of EED-Gli3-Gli1 regulatory axis controls embryonic cortical neurogenesis.Stem cell reports · 2022Article
- Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes.International journal of molecular sciences · 2021Review
- Whole-Genome Selective Scans Detect Genes Associated With Important Phenotypic Traits in Sheep (Ovis ariesFrontiers in genetics · 2021Article
- Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia.Schizophrenia bulletin · 2020Article
- Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.American journal of medical genetics. Part A · 2019Article
- Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.European journal of human genetics : EJHG · 2019Article
- Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.Annals of laboratory medicine · 2019Article
- The Elegance of Sonic Hedgehog: Emerging Novel Functions for a Classic Morphogen.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Review
- Multisystem Involvement in a Patient with aJournal of pediatric genetics · 2017Article
- Hedgehog signaling promotes basal progenitor expansion and the growth and folding of the neocortex.Nature neuroscience · 2016Article
- Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge.Molecular cytogenetics · 2016Article
- Sonic hedgehog signaling: A conserved mechanism for the expansion of outer radial glia and intermediate progenitor cells and for the growth and folding of the neocortex.Neurogenesis (Austin, Tex.) · 2016Article
- Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets.American journal of human genetics · 2012Article
- DBS in the basolateral amygdala improves symptoms of autism and related self-injurious behavior: a case report and hypothesis on the pathogenesis of the disorder.Frontiers in human neuroscience · 2012Article
- Genetic architecture of body size in mammals.Genome biology · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With the exception of the X chromosome, genomic deletions appear to be more prevalent than duplications. Because of a lack of accurate diagnostic methods, submicroscopic duplications have been under-ascertained for a long period. The development of array CGH has enabled the detection of chromosomal microduplications with nearly the same sensitivity as deletions, leading to the discovery of previously unrecognized syndromes. Using a clinical targeted oligonucleotide array (CMA-V6.3 OLIGO), we identified an approximately 360-kb duplication in 9q22.32 in a 21-month-old boy with developmental delay, failure to thrive, and microcephaly. The same duplication was identified in the patient's mother who is also microcephalic and mildly delayed. We have sequenced the chromosomal breakpoints and determined the duplication as tandem in orientation and 363 599 bp in size. The duplicated segment harbors the entire PTCH1 gene. Deletions or loss-of-function mutations of PTCH1 result in basal cell nevus syndrome (Gorlin syndrome), whereas gain-of-function mutations were proposed to lead to holoprosencephaly 7. We propose that patients with microcephaly or holoprosencephaly of unknown origin should also be screened for PTCH1 duplication.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.