ArticlePloS one2015
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Molecular testing in holoprosencephaly.American journal of medical genetics. Part C, Seminars in medical genetics · 2018Pooled it
- Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability.Neurogenetics · 2024Article
- Whole Exome Sequencing of Thymoma Patients Exhibiting Exceptional Responses to Pemetrexed Monotherapy.Cancers · 2023Article
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Review
- Brain Organization and Human Diseases.Cells · 2022Review
- STIL Acts as an Oncogenetic Driver in a Primary Cilia-Dependent Manner in Human Cancer.Frontiers in cell and developmental biology · 2022Article
- Concepts in Multifactorial Etiology of Developmental Disorders: Gene-Gene and Gene-Environment Interactions in Holoprosencephaly.Frontiers in cell and developmental biology · 2021Review
- Autosomal Recessive Primary Microcephaly: Not Just a Small Brain.Frontiers in cell and developmental biology · 2021Review
- The Ciliopathy GeneThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).Genetics research · 2018Review
- Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.Human molecular genetics · 2018Article
- STIL balancing primary microcephaly and cancer.Cell death & disease · 2018Review
- NovelMolecular syndromology · 2017Article
- Holoprosencephaly with Clefts: Data of 85 Patients, Treatment and Outcome: Part 1: History, Subdivisions, and Data on 85 Holoprosencephalic Cleft Patients.Annals of maxillofacial surgeryArticle
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Holoprosencephaly (HPE) is a frequent congenital malformation of the brain characterized by impaired forebrain cleavage and midline facial anomalies. Heterozygous mutations in 14 genes have been identified in HPE patients that account for only 30% of HPE cases, suggesting the existence of other HPE genes. Data from homozygosity mapping and whole-exome sequencing in a consanguineous Turkish family were combined to identify a homozygous missense mutation (c.2150G>A; p.Gly717Glu) in STIL, common to the two affected children. STIL has a role in centriole formation and has previously been described in rare cases of microcephaly. Rescue experiments in U2OS cells showed that the STIL p.Gly717Glu mutation was not able to fully restore the centriole duplication failure following depletion of endogenous STIL protein indicating the deleterious role of the mutation. In situ hybridization experiments using chick embryos demonstrated that expression of Stil was in accordance with a function during early patterning of the forebrain. It is only the second time that a STIL homozygous mutation causing a recessive form of HPE was reported. This result also supports the genetic heterogeneity of HPE and increases the panel of genes to be tested for HPE diagnosis.
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