ArticleFrontiers in genetics2020
Two Novel Mutations of
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Insights into ANKRD11-related epilepsy from 163 people.Epilepsia · 2026Article
- Clinical and genetic characteristics of and diagnostic insights on KBG syndrome in Chinese patients: a retrospective study and literature review.Orphanet journal of rare diseases · 2026Review
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.Orphanet journal of rare diseases · 2024Review
- Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.Epilepsia open · 2023Article
- Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.Journal of personalized medicine · 2022Article
- Identification of NovelFrontiers in genetics · 2022Article
- Clinical and genetic characteristics of Keishi-Bukuryo-Gan syndrome: an analysis of 5 cases.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.BMC medical genomics · 2021Article
- Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes.Frontiers in pediatrics · 2021Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKBG syndrome (OMIM #148050) is a rare, autosomal dominant inherited genetic disorder caused by heterozygous mutations in the ankyrin repeat domain-containing protein 11 (ANKRD11) gene or by microdeletion of chromosome 16q24.3. It is characterized by macrodontia of the upper central incisors, distinctive facial dysmorphism, short stature, vertebral abnormalities, hand anomaly including clinodactyly, and various degrees of developmental delay. KBG syndrome presents with variable clinical feature and severity among individuals. Here, we report two KBG patients who have different novel heterozygous mutations of ANKRD11 gene with wide range of clinical manifestations. CASE PRESENTATION: Two novel heterozygous mutations of ANKRD11 gene were identified in two unrelated Korean patients with variable clinical presentations. The first patient presented with short stature and early puberty and was treated with growth hormone and gonadotropin-releasing hormone agonist without adverse effects. He had mild intellectual disability. In targeted exome sequencing, a novel
conclusionKBG syndrome is often underdiagnosed because of its non-specific features and phenotypic variability. Performing a next-generation sequencing panel, including the ANKRD11 gene for cases of developmental delay with/without short stature may be helpful to identify hitherto undiagnosed KBG syndrome patients.
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