The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
. (Source: Epigenetics)
Source: Epigenetics - September 21, 2017 Category: Genetics & Stem Cells Authors: Erfan Aref-Eshghi Laila C. Schenkel Hanxin Lin Cindy Skinner Peter Ainsworth Guillaume Par é David Rodenhiser Charles Schwartz Bekim Sadikovic Source Type: research
Congenital heart defects in molecularly proven Kabuki syndrome patients
In conclusion, a CHD is detected in 70% of patients with KMT2D (MLL2) pathogenic variants, most commonly left‐sided obstructive lesions, including multiple left‐sided obstructions similar to those observed in the spectrum of the Shone complex, and septal defects. Clinical management of Kabuki syndrome should include echocardiogram at the time of diagnosis, with particular attention to left‐sided obstructive lesions and mitral anomalies, and annual monitoring for aortic arch dilatation. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 8, 2017 Category: Genetics & Stem Cells Authors: Maria Cristina Digilio, Maria Gnazzo, Francesca Lepri, Maria Lisa Dentici, Elisa Pisaneschi, Anwar Baban, Chiara Passarelli, Rossella Capolino, Adriano Angioni, Antonio Novelli, Bruno Marino, Bruno Dallapiccola Tags: ORIGINAL ARTICLE Source Type: research
Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results
Conclusions: All participants experienced catch-up growth during the year of rhGH treatment, but without an influence on body proportions.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - August 9, 2017 Category: Endocrinology Source Type: research
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.
Abstract
A novel causative variant (c. 464T>C, p.Leu155Pro) in the heterogeneous nuclear ribonucleoprotein K (HNRNPK) gene.
PMID: 28771707 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 3, 2017 Category: Genetics & Stem Cells Authors: Miyake N, Inaba M, Mizuno S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N Tags: Clin Genet Source Type: research
Histone H3 lysine 4 methyltransferase KMT2D.
Abstract
Histone-lysine N-methyltransferase 2D (KMT2D), also known as MLL4 and MLL2 in humans and Mll4 in mice, belongs to a family of mammalian histone H3 lysine 4 (H3K4) methyltransferases. It is a large protein over 5500 amino acids in size and is partially functionally redundant with KMT2C. KMT2D is widely expressed in adult tissues and is essential for early embryonic development. The C-terminal SET domain is responsible for its H3K4 methyltransferase activity and is necessary for maintaining KMT2D protein stability in cells. KMT2D associates with WRAD (WDR5, RbBP5, ASH2L, and DPY30), NCOA6, PTIP, PA1...
Source: Gene - June 29, 2017 Category: Genetics & Stem Cells Authors: Froimchuk E, Jang Y, Ge K Tags: Gene Source Type: research
Carotid artery occlusion in Kabuki syndrome: Case report and literature review.
CONCLUSION: Association of cervical arterial disease with this syndrome has never been described, and its pathophysiology is not yet established; however, it can direct future research and maybe treatment.
PMID: 28607822 [PubMed - in process] (Source: Surgical Neurology International)
Source: Surgical Neurology International - June 15, 2017 Category: Neurosurgery Tags: Surg Neurol Int Source Type: research
On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion
We report here a boy with facial asymmetry due to combined premature synostosis of the right coronal and sagittal sutures as well as several symptoms reminiscent of Kabuki syndrome (KS). Our case supports previous observations and suggests that craniosynostosis is a part of the KS phenotype. The uniqueness of our case is the sporadic co‐occurrence of two genetic disorders, that is, a de novo frameshift variant in the KMT2D gene and a de novo 3.2 Mbp 10q22.3q23.1 deletion. Our findings emphasize the importance of the initial clinical assessment of children with craniosynostosis and that genomic and monogenic disorders, ...
Source: American Journal of Medical Genetics Part A - June 1, 2017 Category: Genetics & Stem Cells Authors: Alexandra Topa, Lena Samuelsson, Lovisa Lovmar, G öran Stenman, Lars Kölby Tags: ORIGINAL ARTICLE Source Type: research
GSE81251 RNA-seq analysis of Kdm6a deficient brains in mice
Contributors : Jun Xu ; Rui LiSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusKdm6a is an X-linked histone demethylase that activates gene expression via removal of the repressive methylation mark at histone H3 lysine 27 (H3K27). In humans, KDM6A mutations cause Kabuki syndrome, a disorder characterized by intellectual disability and motor coordination deficits. To assess the role of Kdm6a in brain development and behavior, we generated a neuron-specific Kdm6a deficient mouse model using Cre-LoxP recombination. The mutant mice exhibited an adult-onset deficit in motor coordination. ...
Source: GEO: Gene Expression Omnibus - May 6, 2017 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Heterogenno ść kliniczna zespołu Kabuki (zespół Niikawy i Kurokiego) na podstawie opisu przypadku15-letniej pacjentki z nawykowym zwichnięciem rzepek
Publication date: Available online 13 April 2017 Source:Pediatria Polska Author(s): Michał Błoch, Robert Śmigiel Kabuki Syndrome (KS) is a rare genetic disease affecting about 1 in 30,000−86,000 live births. KS is characterized by the appearance of the distinctive dysmorphic features and coexisting congenital disorders. The majority of patients are diagnosed with mild and moderate intellectual disabilities. The clinical picture of the KS consists of skeletal disorders, for example, joints hypermobility. One such described patient shows intellectual norm which allows her to be educated in public school with the sta...
Source: Pediatria Polska - April 14, 2017 Category: Pediatrics Source Type: research
Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations
The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. (Source: Brain and Development)
Source: Brain and Development - April 9, 2017 Category: Neurology Authors: Naoko Kurahashi, Noriko Miyake, Seiji Mizuno, Eriko Koshimizu, Hirokazu Kurahashi, Keitaro Yamada, Jun Natsume, Yusuke Aoki, Miho Nakamura, Hiroko Taniai, Yuki Maki, Chihiro Abe-Hatano, Naomichi Matsumoto, Koichi Maruyama Tags: Original article Source Type: research
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. Case report and literature review.
Abstract
Kabuki syndrome is a genetically heterogeneous disorder characterized by postnatal growth retardation, skeletal abnormalities, intellectual disability, facial dysmorphisms and a variable range of organ malformations. In approximately 30% of affected individuals, the underlying genetic defect remains unknown. A small number of inactivating heterozygous HNRNPK mutations has recently been reported to be associated with a condition partially overlapping or suggestive of Kabuki syndrome. Here, we report on an 11 year-old girl with a complex phenotype in whom the diagnosis of KS was suggested but molecu...
Source: Clinical Genetics - April 4, 2017 Category: Genetics & Stem Cells Authors: Dentici ML, Barresi S, Niceta M, Pantaleoni F, Pizzi S, Dallapiccola B, Tartaglia M, Digilio MC Tags: Clin Genet Source Type: research
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome
We report two patients’ presentation of Kabuki syndrome caused by different KMT2D mutations, both including an interrupted/bipartite clavicle. The clinical diagnosis of Kabuki syndrome may be challenging, especially in younger patients and we suggest that the observation of a bipartite clavicle may be an additional diagnostic clue to prompt investigation for Kabuki syndrome. We also hypothesize that bipartite/pseudofractured clavicles or other skeletal defects may be under‐recognized features of the clinical presentation of the chromatin remodeling disorders. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 2, 2017 Category: Genetics & Stem Cells Authors: Maria Haanp ää, Helena Schlecht, Gauri Batra, Jill Clayton‐Smith, Sofia Douzgou Tags: CLINICAL REPORT Source Type: research
Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family.
We describe a family with the co-existence and co-segregation of generalized epilepsy with febrile seizures plus (GEFS+) and Kabuki syndrome (KS). The proband, a 7-year-old male, presented with GEFS+, dysmorphic facial features, short stature, developmental delay, and intellectual disability. Two novel missense mutations: p.G325A in the KDM6A gene responsible for KS and p.G1877V in the SCN1A gene responsible for GEFS+ were identified using the TruSight One sequencing panel. This family is the first in the literature to be confirmed molecularly with the blended phenotype of GEFS+ and KS. Furthermore, two affected female pat...
Source: Annals of Clinical and Laboratory Science - March 1, 2017 Category: Laboratory Medicine Authors: Kim J, Lee CG Tags: Ann Clin Lab Sci Source Type: research
GSE83420 Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics and 3D genomics
Contributors : Maria N Loviglio ; Marion Leleu ; Alexandre ReymondSeries Type : OtherOrganism : Homo sapiensSmith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances and stereotypic behaviors. We investigated a cohort of 15 individuals with a clinical suspicion of SMS, who showed neither deletion in the SMS critical region nor damaging variants in RAI1. Potentially deleterious variants were identified in nine of these subjects using whole-exome sequencing. ...
Source: GEO: Gene Expression Omnibus - February 12, 2017 Category: Genetics & Stem Cells Tags: Other Homo sapiens Source Type: research
Refractory ITP in a patient with Kabuki syndrome: response to low-dose rituximab.
PMID: 28138864 [PubMed - as supplied by publisher] (Source: International Journal of Hematology)
Source: International Journal of Hematology - January 29, 2017 Category: Hematology Authors: Kerr B, Murphy P, Quinn J Tags: Int J Hematol Source Type: research
