ArticleHuman genetics2010
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 77 citations in OpenAlex.
- Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family.European journal of human genetics : EJHG · 2026Article
- Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature.BMC endocrine disorders · 2025Review
- LRP2 contributes to planar cell polarity-dependent coordination of motile cilia function.Cell and tissue research · 2023Article
- Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.BMC biology · 2023Article
- Assessing the Role of Ependymal and Vascular Cells as Sources of Extracellular Cues Regulating the Mouse Ventricular-Subventricular Zone Neurogenic Niche.Frontiers in cell and developmental biology · 2022Review
- Generation of a homozygous LRP2 knockout human embryonic stem cell line (FDCHDPe010-A-56) by CRISPR/Cas9 system.Stem cell research · 2021Article
- Neural tube closure requires the endocytic receptor Lrp2 and its functional interaction with intracellular scaffolds.Development (Cambridge, England) · 2021Article
- LRP2 controls sonic hedgehog-dependent differentiation of cardiac progenitor cells during outflow tract formation.Human molecular genetics · 2020Article
- 14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.Molecular genetics & genomic medicine · 2020Review
- Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations.Molecular cytogenetics · 2020Article
- The hedgehog pathway and ocular developmental anomalies.Human genetics · 2019Review
- Molecular analysis of NPAS3 functional domains and variants.BMC molecular biology · 2018Article
- Chromosome 18 gene dosage map 2.0.Human genetics · 2018Article
- Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.American journal of medical genetics. Part C, Seminars in medical genetics · 2018Review
- SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.Congenital anomalies · 2018Article
- The mutational spectrum of FOXA2 in endometrioid endometrial cancer points to a tumor suppressor role.Gynecologic oncology · 2016Article
- The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- A diagnostic approach for cerebral palsy in the genomic era.Neuromolecular medicine · 2014Article
- Molecular analysis of holoprosencephaly in South America.Genetics and molecular biology · 2014Article
- The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.Pediatric nephrology (Berlin, Germany) · 2014Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Holoprosencephaly (HPE) is the most common developmental forebrain anomaly in humans. Both environmental and genetic factors have been identified to play a role in the HPE phenotype. Previous studies of the genetic bases of HPE have taken a phenotype-first approach by examining groups of patients with HPE for specific mutations or deletions in known or candidate HPE genes. In this study, we characterized the presence or absence of HPE or a microform in 136 individuals in which microarray-based comparative genomic hybridization (aCGH) identified a deletion of one of 35 HPE loci. Frank holoprosencephaly was present in 11 individuals with deletions of one of the common HPE genes SHH, ZIC2, SIX3, and TGIF1, in one individual with a deletion of the HPE8 locus at 14q13, and in one individual with a deletion of FGF8, whereas deletions of other HPE loci and candidate genes (FOXA2 and LRP2) expressed microforms of HPE. Although individuals with deletions of other HPE candidates (DISP1, LSS, HHIP, SMO, BMP4, CDON, CDC42, ACVR2A, OTX2, and WIF1) had clinically significant features, none had frank HPE or a microform. A search for significant aCGH findings in individuals referred for testing for HPE revealed a novel association of a duplication involving GSK3B at 3q13.33 with HPE or a microform, seen in two unrelated individuals.
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