Dohsa ‐hou intervention for reciprocal interpersonal interaction for a girl with Kabuki syndrome and autism spectrum disorder
Although available evidence for psychosocial treatment for patients with Kabuki syndrome is limited, Dohsa-hou, a psychomotor therapy, could be a treatment option for autism spectrum disorder associated with the disorder. AbstractAlthough available evidence for psychosocial treatment for patients with Kabuki syndrome is limited, Dohsa-hou, a psychomotor therapy, could be a treatment option for autism spectrum disorder associated with the disorder. (Source: Clinical Case Reports)
Source: Clinical Case Reports - June 24, 2021 Category: General Medicine Authors: Juri Kawano,
Haruo Fujino Tags: CASE REPORT Source Type: research
Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction
An amendment to this paper has been published and can be accessed via the original article. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 1, 2021 Category: Internal Medicine Authors: Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Levrence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann and Raul Urrutia Tags: Correction Source Type: research
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature
Eur J Med Genet. 2021 Mar 29:104210. doi: 10.1016/j.ejmg.2021.104210. Online ahead of print.ABSTRACTKabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been described in varying rates in several studies. We aimed to evaluate the prevalence and nature of ophthalmological findings in a cohort of KS patients in Israel. Medical records of all patients diagnosed with KS in our tertiary center between 2004-2020 were...
Source: European Journal of Medical Genetics - April 1, 2021 Category: Genetics & Stem Cells Authors: Rona Merdler-Rabinowicz Daphna Prat Ben Pode-Shakked Gali Abel Odelia Chorin Raz Somech Annick Raas-Rothschild Source Type: research
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature
Eur J Med Genet. 2021 Mar 29:104210. doi: 10.1016/j.ejmg.2021.104210. Online ahead of print.ABSTRACTKabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been described in varying rates in several studies. We aimed to evaluate the prevalence and nature of ophthalmological findings in a cohort of KS patients in Israel. Medical records of all patients diagnosed with KS in our tertiary center between 2004-2020 were...
Source: European Journal of Medical Genetics - April 1, 2021 Category: Genetics & Stem Cells Authors: Rona Merdler-Rabinowicz Daphna Prat Ben Pode-Shakked Gali Abel Odelia Chorin Raz Somech Annick Raas-Rothschild Source Type: research
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature
Eur J Med Genet. 2021 Mar 29:104210. doi: 10.1016/j.ejmg.2021.104210. Online ahead of print.ABSTRACTKabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been described in varying rates in several studies. We aimed to evaluate the prevalence and nature of ophthalmological findings in a cohort of KS patients in Israel. Medical records of all patients diagnosed with KS in our tertiary center between 2004-2020 were...
Source: European Journal of Medical Genetics - April 1, 2021 Category: Genetics & Stem Cells Authors: Rona Merdler-Rabinowicz Daphna Prat Ben Pode-Shakked Gali Abel Odelia Chorin Raz Somech Annick Raas-Rothschild Source Type: research
Genes, Vol. 12, Pages 468: Kabuki Syndrome —Clinical Review with Molecular Aspects
Genes, Vol. 12, Pages 468: Kabuki Syndrome—Clinical Review with Molecular Aspects
Genes doi: 10.3390/genes12040468
Authors:
Snir Boniel
Krystyna Szymańska
Robert Śmigiel
Krzysztof Szczałuba
Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of the lower lip, large and prominent ears, hypertrichosis and scoliosis. Other characteristics include poor physical growth, cardiac, gastrointestinal ...
Source: Genes - March 25, 2021 Category: Genetics & Stem Cells Authors: Snir Boniel Krystyna Szyma ńska Robert Śmigiel Krzysztof Szcza łuba Tags: Review Source Type: research
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Genetics in Medicine, Published online: 05 March 2021; doi:10.1038/s41436-021-01119-8Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 (Source: Genetics in Medicine)
Source: Genetics in Medicine - March 5, 2021 Category: Genetics & Stem Cells Authors: V íctor Faundes Stephanie Goh Rhoda Akilapa Heidre Bezuidenhout Hans T. Bjornsson Lisa Bradley Angela F. Brady Elise Brischoux-Boucher Han Brunner Saskia Bulk Natalie Canham Declan Cody Maria Lisa Dentici Maria Cristina Digilio Frances Elmslie Andrew E. Source Type: research
Kabuki Syndrome: Identification of Two Novel Variants in < b > < i > KMT2D < /i > < /b > and < b > < i > KDM6A < /i > < /b >
Kabuki syndrome (KS) is a rare genetic disorder characterized by the following 5 crucial symptoms: dysmorphic facial features, growth retardation, skeletal abnormalities, intellectual disability, and dermatoglyphic malformations. Studies show that most of the KS cases are caused by mutations or large deletions in theKMT2D gene, while the other cases show mutations inKDM6A. We studied 2 patients with suspected KS in 2 unrelated families by whole-exome sequencing to identify the possible genetic cause(s) and by Sanger sequencing to validate the identified variants and check the segregation in other members of the families. F...
Source: Molecular Syndromology - February 17, 2021 Category: Molecular Biology Source Type: research
Kabuki Syndrome: Identification of Two Novel Variants in < b > < i > KMT2D < /i > < /b > and < b > < i > KDM6A < /i > < /b >
Kabuki syndrome (KS) is a rare genetic disorder characterized by the following 5 crucial symptoms: dysmorphic facial features, growth retardation, skeletal abnormalities, intellectual disability, and dermatoglyphic malformations. Studies show that most of the KS cases are caused by mutations or large deletions in theKMT2D gene, while the other cases show mutations inKDM6A. We studied 2 patients with suspected KS in 2 unrelated families by whole-exome sequencing to identify the possible genetic cause(s) and by Sanger sequencing to validate the identified variants and check the segregation in other members of the families. F...
Source: Molecular Syndromology - February 17, 2021 Category: Molecular Biology Source Type: research
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction
Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 5, 2021 Category: Internal Medicine Authors: Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Levrence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann and Raul Urrutia Tags: Research Source Type: research
Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura.
Authors: Mushino T, Hiroi T, Yamashita Y, Suzaki N, Mishima H, Ueno M, Kinoshita A, Minami K, Imai K, Yoshiura KI, Sonoki T, Tamura S
Abstract
Kabuki syndrome is characterized by multiple systemic anomalies and intellectual disability. It is complicated with immunodeficiencies and autoimmune disorders. The syndrome is caused by a mutation in the KMT2D gene. We herein report a case of a Kabuki syndrome with developing immune thrombocytopenic purpura (ITP) and progressive splenomegaly. Laparoscopic splenectomy was performed and the patients' symptoms quickly disappeared with platelet recovery. After this ope...
Source: Internal Medicine - February 3, 2021 Category: Internal Medicine Tags: Intern Med Source Type: research
The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies.
Abstract
Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids and long palpebral fissures, and prominent finger pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of Kabuki syndrome. Here, we report the first Iranian case with Kabuki syndrome with an IQ of 79, two episodes of viral pneumonia and distinctive facial features, prominent ears and persistent fetal fingertip pads. These characte...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - January 14, 2021 Category: Endocrinology Authors: Safarirad M, Ganji AA, Fekrvand S, Yazdani R, Motlagh AV, Abolhassani H, Aghamohammadi A Tags: Endocr Metab Immune Disord Drug Targets Source Type: research
Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review.
Conclusions: Ophthalmic abnormalities are frequently associated with KS. The importance of ophthalmological examination in all patients with KS for early detection of ocular anomalies to prevent visual impairment cannot be underemphasized. Abbreviations: KS: Kabuki syndrome.
PMID: 33334222 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 20, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Kabuki syndrome: A rare clinical presentation
Abhishek D W.arAnnals of Indian Academy of Neurology 2020 23(6):828-829 (Source: Annals of Indian Academy of Neurology)
Source: Annals of Indian Academy of Neurology - December 18, 2020 Category: Neurology Authors: Abhishek D Wankar Source Type: research
M256 unmasking kabuki syndrome: a 7-year-old girl with recurrent otitis media, hypogammaglobulinemia and autoimmune cytopenias
Kabuki syndrome (KS) is a rare disorder characterized by distinct facial features, growth deficiency, intellectual disability, skeletal and visceral abnormalities and immune dysregulation. It is caused by pathogenic variants in two known genes, KMT2D (histone-lysine N-methyltransferase 2D) and KDM6A (lysine-specific demethylase 6A). (Source: Annals of Allergy, Asthma and Immunology)
Source: Annals of Allergy, Asthma and Immunology - November 1, 2020 Category: Allergy & Immunology Authors: T. Ahn, M. Garcia-Lloret Source Type: research
