Expression pattern of Kmt2d in murine craniofacial tissues.

Expression pattern of Kmt2d in murine craniofacial tissues. Gene Expr Patterns. 2019 Jun 19;:119060 Authors: Dong C, Umar M, Bartoletti G, Gahankari A, Fidelak L, He F Abstract Formation of the calvaria is a multi-staged process and is regulated by multiple genetic factors. Disruption of normal calvarial development usually causes craniosynostosis, a prevalent birth defect characterized by premature fusion of calvarial bone. Recent studies have identified mutations of KMT2D allele in patients with craniosynostosis, indicating a potential role for Kmt2d in calvarial development. KMT2D mutations have also been implicated in Kabuki syndrome, which features a distinct facial appearance, skeletal abnormality, growth retardation and intellectual disability. However, the expression pattern of Kmt2d has not been fully elucidated. In the present study we examined the expression pattern of Kmt2d at multiple stages of embryo development in mice, with a focus on the craniofacial tissues. Our in situ hybridization results showed that Kmt2d mRNA is expressed in the developing calvarial osteoblasts, epithelia and neural tissues. Such an expression pattern is in line with the phenotype in Kabuki syndrome, suggesting that Kmt2d plays an intrinsic role in normal development and homeostasis of these craniofacial tissues. PMID: 31228576 [PubMed - as supplied by publisher]
Source: Gene Expression Patterns : GEP - Category: Genetics & Stem Cells Authors: Tags: Gene Expr Patterns Source Type: research

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Publication date: Available online 19 June 2019Source: Gene Expression PatternsAuthor(s): Chunmin Dong, Meenakshi Umar, Garrett Bartoletti, Apurva Gahankari, Lauren Fidelak, Fenglei HeAbstractFormation of the calvaria is a multi-staged process and is regulated by multiple genetic factors. Disruption of normal calvarial development usually causes craniosynostosis, a prevalent birth defect characterized by premature fusion of calvarial bone. Recent studies have identified mutations of KMT2D allele in patients with craniosynostosis, indicating a potential role for Kmt2d in calvarial development. KMT2D mutations have also been...
Source: Gene Expression Patterns - Category: Genetics & Stem Cells Source Type: research
In this study, we took a non-stringent score (score = 0) as the threshold to investigate the improvement of the calling results. Genotype Quality Genotype Quality (GQ) (Zhang et al., 2013) is used to evaluate the filtering results of DNSNVs, which indicates the quality value of the most likely genotype. The quality value refers the possibility of the genotype being present at the site. The larger value means the greater the likelihood of the genotype. Results To facilitate the appropriate choice of the trio calling pipelines for detecting the DNSNVs, in our study, we firstly evaluated the results of three commonly used...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 19 November 2018Source: NeuroImage: ClinicalAuthor(s): Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, Natacha Lehman, Ana Saitovitch, Vincent Gatinois, Guilaine Boursier, Elodie Sanchez, Elza Rechtman, Ludovic Fillon, Stanislas Lyonnet, Kim-Hanh Le Quang Sang, Genevieve Baujat, Marlene Rio, Odile Boute, Laurence Faivre, Elise Schaefer, Damien Sanlaville, Monica Zilbovicius, David GreventAbstractKabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research
Kabuki syndrome is a congenital disorder with multiple anomalies and intellectual disabilities. People with Kabuki syndrome have mild to severe developmental delay and intellectual disability, as well as a higher incidence of anxiety, attention problems, obsessive-compulsive traits and autistic behaviors. Self-Inflicted Skin Lesions is a condition in which changes on the skin are solely produced by the patient ’s own actions. This usually occurs as a result or manifestation of various psychologic problems.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research
Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. Mutations in KMT2D and KDM6A have...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
Abstract Kabuki syndrome is mainly caused by autosomal de-novo pathogenic variants in the KMT2D and KDM6A genes. The clinical features of this syndrome are highly variable, making the diagnosis of Kabuki-like phenotypes difficult, even for experienced clinical geneticists. Herein we present molecular genetic findings of causal genetic variation using array comparative genome hybridization and a Mendeliome analysis, utilizing targeted exome analysis focusing on regions harboring rare disease-causing variants in Kabuki-like patients which remained KMT2D/KDM6A-negative. The aCGH analysis revealed a pathogenic CNV in ...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
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. We...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
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 st...
Source: Pediatria Polska - Category: Pediatrics Source Type: research
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 molecular test...
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
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 - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
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