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KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

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0 Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2127

Abstract: KBG syndrome is a rare genetic disorder involving macrodontia of the upper central incisors, craniofacial, skeletal, and neurologic symptoms, caused either by a heterozygous variant in ANKRD11 or deletion of 16q24.3, including ANKRD11. Diagnostic criteria… read more here.

Keywords: kbg syndrome; findings seven; molecular findings; syndrome clinical ... See more keywords

Natural history of KBG syndrome in a large European cohort

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2 Published in 2022 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddac167

Abstract: Abstract KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of… read more here.

Keywords: natural history; kbg syndrome; short stature; history kbg ... See more keywords

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

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2 Published in 2022 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddac289

Abstract: Abstract Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies. The ANKRD11 gene encodes the… read more here.

Keywords: pathogenic variants; kbg syndrome; dnam profiles; signature ... See more keywords

Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

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1 Published in 2022 at "Journal of Medical Genetics"

DOI: 10.1136/jmg-2022-108632

Abstract: Background KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving ANKRD11 cause… read more here.

Keywords: kbg syndrome; phenotype correlation; genotype phenotype;

Growth hormone therapy for children with KBG syndrome: A case report and review of literature

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1 Published in 2020 at "World Journal of Clinical Cases"

DOI: 10.12998/wjcc.v8.i6.1172

Abstract: BACKGROUND The incidence of short stature in KBG syndrome is relatively high. Data on the therapeutic effects of growth hormone (GH) on children with KBG syndrome accompanied by short stature in the previous literature has… read more here.

Keywords: syndrome accompanied; children kbg; short stature; kbg syndrome ... See more keywords

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

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1 Published in 2020 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2020.00631

Abstract: Mendelian disorders of the epigenetic machinery (MDEMs), also named chromatin modifying disorders, are a broad group of neurodevelopmental disorders, caused by mutations in functionally related chromatin genes. Mental retardation autosomal dominant 23 (MRD23) syndrome, due… read more here.

Keywords: setd5 gene; kbg syndrome; gene; gene haploinsufficiency ... See more keywords

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

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2 Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23115912

Abstract: KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using… read more here.

Keywords: kbg syndrome; molecular spectrum; expanding molecular; spectrum ankrd11 ... See more keywords

Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature

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2 Published in 2022 at "Journal of Personalized Medicine"

DOI: 10.3390/jpm12030407

Abstract: KBG syndrome (KBGS) is a rare autosomal dominant inherited disease that involves multiple systems and is associated with variations in the ankyrin repeat domain 11 (ANKRD11) gene. We report the clinical and genetic data for… read more here.

Keywords: kbg syndrome; variation ankrd11; ankrd11 gene; report ... See more keywords