ArticleEuropean journal of human genetics : EJHG2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 82 citations in OpenAlex.
- Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization.Biomedical reports · 2026Article
- Insights into ANKRD11-related epilepsy from 163 people.Epilepsia · 2026Article
- Prenatal diagnosis and genetic counseling of aThe Journal of international medical research · 2026Article
- Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature.Human genome variation · 2026Article
- Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.Frontiers in pediatrics · 2026Article
- A Novel Mutation of CADHERIN (Clinical case reports · 2025Article
- Deficiency of KMT2D causes autistic-like behavior in mice and zebrafish.Communications biology · 2025Article
- KBG syndrome: report and follow-up on three unrelated patients observed at different ages.Italian journal of pediatrics · 2025Article
- Article
- The dual role of CCND1 in heterotopic ossification: A Non-canonical Pathway for Celecoxib treatment.Heliyon · 2024Article
- Olfactory bulb anomalies in KBG syndrome mouse model and patients.BMC medicine · 2024Article
- Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.Epilepsia open · 2023Article
- Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.Journal of medical genetics · 2023Review
- A Gene-Based Algorithm for Identifying Factors That May Affect a Speaker's Voice.Entropy (Basel, Switzerland) · 2023Article
- Natural history of KBG syndrome in a large European cohort.Human molecular genetics · 2022Article
- A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature.Clinical case reports · 2022Article
- Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes.Frontiers in pediatrics · 2021Article
- Two Novel Mutations ofFrontiers in genetics · 2020Article
- 16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature.Frontiers in pediatrics · 2020Article
- A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature.Molecular genetics & genomic medicine · 2019Article
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21 authors at 14 institutions in 7 countries.
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No grant is acknowledged in the PubMed record.
Abstract
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability. To assess whether the haploinsufficiency of ANKRD11-flanking genes, such as ZFPM1, CDH15 and ZNF778, contributed to either the severity of the neurological impairment or was associated with other clinical features, we collected 12 new cases with a 16q24.2q24.3 deletion (de novo in 11 cases), ranging from 343 kb to 2.3 Mb. In 11 of them, the deletion involved the ANKRD11 gene, whereas in 1 case only flanking genes upstream to it were deleted. By comparing the clinical and genetic features of our patients with those previously reported, we show that the severity of the neurological phenotype and the frequency of congenital heart defects characterize the deletions that, besides ANKRD11, contain ZFPM1, CDH15 and ZNF778 as well. Moreover, the presence of thrombocytopenia and astigmatism should be taken into account to distinguish between 16q24 microdeletion syndrome and KBG syndrome. The single patient not deleted for ANKRD11, whose phenotype is characterized by milder psychomotor delay, cardiac congenital malformation, thrombocytopenia and astigmatism, confirms all this data.
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