Interannular bridge: a novel approach to address congenital mitral regurgitation.
We report a successful case of mitral valve repair involving the novel option of interannular bridge for valvuloplasty to address congenital mitral regurgitation.
PMID: 32119854 [PubMed - as supplied by publisher] (Source: The Annals of Thoracic Surgery)
Source: The Annals of Thoracic Surgery - February 27, 2020 Category: Cardiovascular & Thoracic Surgery Authors: Ishidou M, Ito H, Murata M, Hirose K, Ikai A, Sakamoto K Tags: Ann Thorac Surg Source Type: research
"RE: Lin JL, et al. 'Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.' Clin Genet. 2015;88(3):255-260".
PMID: 32064601 [PubMed - in process] (Source: Clinical Genetics)
Source: Clinical Genetics - February 19, 2020 Category: Genetics & Stem Cells Authors: Lindsley AW Tags: Clin Genet Source Type: research
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Genetics in Medicine, Published online: 17 January 2020; doi:10.1038/s41436-019-0743-3A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - January 16, 2020 Category: Genetics & Stem Cells Authors: Sara Cuvertino Verity Hartill Alice Colyer Terence Garner Nisha Nair Lihadh Al-Gazali Natalie Canham Victor Faundes Frances Flinter Jozef Hertecant Muriel Holder-Espinasse Brian Jackson Sally Ann Lynch Fatima Nadat Vagheesh M. Narasimhan Michelle Peckham Source Type: research
Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
Abstract
Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive facies, postnatal growth deficiency, cardiac defects and skeletal anomalies. Studies have determined that pathogenic variants of the lysine-specific methyltransferase 2D (KMT2D) and lysine-specific demethylase 6A (KDM6A) genes are the major causes of KS. The two genes encode different histone-modifying enzymes that are found in the same protein complex that is critical for cell differentiation during development. Here we report the results from next-generation sequencing of genomic DNA from 13 patients who had a clinic...
Source: Gene - January 10, 2020 Category: Genetics & Stem Cells Authors: Yap CS, Shekhar Jamuar S, Lai AHM, Tan ES, Ng I, Ting TW, Tan EC Tags: Gene Source Type: research
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
We present the first patient described with haploinsufficency ofKMT2D leading to Kabuki syndrome. Deletion ofKMT2D has been thought to be lethal, but here we describe a patient withKMT2D deletion and classical Kabuki syndrome phenotype. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 7, 2019 Category: Genetics & Stem Cells Authors: Teresa Romeo Luperchio,
Carolyn D. Applegate,
Olaf Bodamer,
Hans Tomas Bjornsson Tags: LETTER TO THE EDITOR Source Type: research
Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome
Kabuki syndrome (KS) is commonly caused by mutations in the histone-modifying enzyme lysine methyltransferase 2D (KMT2D). Immune dysfunction is frequently observed in individuals with KS, but the role of KMT2D in immune system function has not been identified. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - December 5, 2019 Category: Allergy & Immunology Authors: Genay O. Pilarowski, Tareian Cazares, Li Zhang, Joel S. Benjamin, Ke Liu, Sajjeev Jagannathan, Nadeem Mousa, Jennifer Kasten, Artem Barski, Andrew W. Lindsley, Hans T. Bjornsson Source Type: research
Abnormal Peyer ’s patch development and B cell gut homing drive IgA deficiency in Kabuki syndrome
Capsule Summary: A Kabuki syndrome mouse model reveals fewer and smaller Peyer ’s patches and decreased Itgb7, a gene encoding a gut homing molecule, suggesting that disruption of immune gut function contributes to the Kabuki syndrome disease phenotype. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - December 5, 2019 Category: Allergy & Immunology Authors: Genay O. Pilarowski, Tareian Cazares, Li Zhang, Joel S. Benjamin, Ke Liu, Sajjeev Jagannathan, Nadeem Mousa, Jennifer Kasten, Artem Barski, Andrew W. Lindsley, Hans T. Bjornsson Source Type: research
Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome.
Conclusions: The management of hip dislocation by conservative or surgical method showed successful results. Awareness of Kabuki syndrome could lead to an early diagnosis of this rare disease in patients with hip dislocation and allow for early detection of other underlying conditions and multidisciplinary management.
PMID: 31788172 [PubMed - in process] (Source: Clinics in Orthopedic Surgery)
Source: Clinics in Orthopedic Surgery - December 5, 2019 Category: Orthopaedics Tags: Clin Orthop Surg Source Type: research
Changes in ocular motility in Kabuki syndrome.
Authors: Del Cerro I, Merino P, Gómez de Liaño P, Alan G
Abstract
Kabuki syndrome is a rare genetic disorder, caused by mutation in the KMT2D or KDM6A genes, which affects several organs in the majority of patients, among which are the eyes. The most typical clinical characteristics are mental retardation, postnatal growth retardation, skeletal anomalies, and characteristic facial features. As the eyes are affected in most of the cases, ophthalmological examination is recommended for the early detection of ocular anomalies, in order to prevent visual impairment. The most frequent ocular signs are strabis...
Source: Archivos de la Sociedad Espanola de Oftalmologia - November 21, 2019 Category: Opthalmology Tags: Arch Soc Esp Oftalmol Source Type: research
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 14, 2019 Category: Internal Medicine Authors: Huakun Shangguan, Chang Su, Qian Ouyang, Bingyan Cao, Jian Wang, Chunxiu Gong and Ruimin Chen Tags: Research Source Type: research
M296 a child with kabuki syndrome and coxsackie b type 5 meningoencephalomyelitis
Kabuki Syndrome is a disorder characterized by abnormal facial features, short stature, cardiac defects, and intellectual disability. Immunodeficiency is a lesser known feature. (Source: Annals of Allergy, Asthma and Immunology)
Source: Annals of Allergy, Asthma and Immunology - October 31, 2019 Category: Allergy & Immunology Authors: D. Cerrone, D. Yousif, S. Ward, M. Braskett Source Type: research
Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.
CONCLUSIONS: Kabuki syndrome has a strong clinical and biological heterogeneity. The main pathogenesis of Kabuki syndrome is the imbalance between switch-on and -off of the chromatin. The direction of drug research may be to regulate the normal opening of chromatin. Small molecule inhibitors of histone deacetylases maybe helpful in treatment of mental retardation and reduce cancer risk in KS.
PMID: 31587141 [PubMed - as supplied by publisher] (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - October 4, 2019 Category: Pediatrics Authors: Wang YR, Xu NX, Wang J, Wang XM Tags: World J Pediatr Source Type: research
Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome
by Maria de los Angeles Serrano, Bradley L. Demarest, Tarlynn Tone-Pah-Hote, Martin Tristani-Firouzi, H. Joseph Yost
Kabuki Syndrome patients have a spectrum of congenital disorders, including congenital heart defects, the primary determinant of mortality. Seventy percent of Kabuki Syndrome patients have mutations in the histone methyl-transferaseKMT2D. However, the underlying mechanisms that drive these congenital disorders are unknown. Here, we generated and characterized zebrafishkmt2d null mutants that recapitulate the cardinal phenotypic features of Kabuki Syndrome, including microcephaly, palate defects, abnormal ea...
Source: PLoS Biology: Archived Table of Contents - September 2, 2019 Category: Biology Authors: Maria de los Angeles Serrano Source Type: research
Orofacial features and medical profile of eight individuals with Kabuki syndrome.
CONCLUSIONS: There was a great diversity of oral, craniofacial and systemic characteristic among the KS patients, suggesting that an inter-disciplinary approach should be taken for their dental treatment.
PMID: 31433389 [PubMed - as supplied by publisher] (Source: Medicina Oral, Patologia Oral y Cirugia Bucal)
Source: Medicina Oral, Patologia Oral y Cirugia Bucal - August 23, 2019 Category: ENT & OMF Tags: Med Oral Patol Oral Cir Bucal Source Type: research
Clinical course and management of adult-onset immune-mediated cytopenia associated with Kabuki syndrome.
PMID: 31427185 [PubMed - as supplied by publisher] (Source: European Journal of Internal Medicine)
Source: European Journal of Internal Medicine - August 15, 2019 Category: Internal Medicine Authors: Cantoni S, Fattizzo B Tags: Eur J Intern Med Source Type: research
