Changes in dental development in child with kabuki syndrome
Kabuki syndrome (KS) is a rare congenital syndrome characterized by facial dysmorphia, mild to moderate mental impairment, and skeletal and dental abnormalities, and it may present associated syndromes. An 8-year-old male patient diagnosed with KS and with the association of Pierre Robin sequence was examined, and there was a delay in the eruption of permanent teeth and the presence of eruption cysts in the region of the upper central incisors. In the general physical examination, the child presented difficulties in speech, walking, and generalized spasm. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 17, 2022 Category: ENT & OMF Authors: Patr ícia Lopes Alcantara, Raquel D´Aquino Garcia Caminha, Ludimila Lemes Moura, Paulo Sérgio Da Silva Santos, Cássia Maria Fischer Rubira Source Type: research
KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: a rare case report describing male twins in Taiwan and a literature review
(Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - July 31, 2022 Category: Perinatology & Neonatology Authors: Jing-Er Chen, Yun-Ru Chen, Hsin-Hui Wang, Dau-Ming Niu, Yen-Fu Cheng, Yann-Jang Chen Tags: Letter to the Editor Source Type: research
Sex-biased and parental allele-specific gene regulation by KDM6A
ConclusionsOur study reveals new sex-related roles of KDM6A in the regulation of developmental genes, the maintenance of sex-biased gene expression, and the differential expression of parental alleles. (Source: Biology of Sex Differences)
Source: Biology of Sex Differences - July 23, 2022 Category: Biology Source Type: research
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes
AbstractKabuki syndrome is a well-recognized syndrome characterized by facial dysmorphism and developmental delay/intellectual disability and in the majority of patients a germline variant inKMT2D is found. As somaticKMT2D variants can be found in 5 –10% of tumors a tumor predisposition in Kabuki syndrome is discussed. So far less than 20 patients with Kabuki syndrome and a concomitant malignancy have been published. Here we report on a female patient with Kabuki syndrome and a c.2558_2559delCT germline variant inKMT2D who developed an embryonal rhabdomyosarcoma (ERMS) at 10 years. On tumor tissue we performed DNA-meth...
Source: Familial Cancer - July 19, 2022 Category: Cancer & Oncology Source Type: research
Multiple endocrine neoplasia type 2 and autoimmune polyendocrine syndromes (type 1 diabetes mellitus and Graves' disease) in a 16-year-old male with Kabuki syndrome
We describe the clinical, molecular, and biochemical findings of MEN2A, APS-2, and Kabuki syndrome (KS) in a 16-year-old male. Whole exome sequencing was performed to identify the genetic cause of the pheochromocytoma and syndromic features including facial dysmorphism, developmental delay, and epilepsy. RET pathogenic variant and KMT2D pathogenic variant were identified, and he was diagnosed with MEN2A and KS. This is the first case of association between MEN2 and APS in adolescence and the second proven case in humans. In addition, this is the first report of MEN2 and APS in KS.PMID:35676000 | DOI:10.1507/endocrj.EJ22-00...
Source: Endocrine Journal - June 8, 2022 Category: Endocrinology Authors: Esther Park Min-Sun Kim Eu Seon Noh Ji-Eun Lee Su Jin Kim Young Se Kwon Sung Yoon Cho Source Type: research
Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene
We present genetic, clinical, electroencephalographic, and behavioral features of a 4-year-old girl with epileptic encephalopathy related to a de novo intronic variant in the SCN2A gene. Initial NGS analysis revealed a frameshift variant in the KDM6A gene and a previously reported missense variant in SCN1A. Due to lack of typical clinical signs of Kabuki syndrome, we performed X-chromosome inactivation that revealed nearly complete skewed inactivation. Segregation analysis showed that the SCN1A variant was inherited from a healthy father. The proband had resistance to multiple antiseizure medications but responded well to ...
Source: Frontiers in Genetics - May 31, 2022 Category: Genetics & Stem Cells Source Type: research
Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation
In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D c.12592 C>T mutation (p.R4198X) were reprogrammed using non-integrative Sendai virus to generate three induced pluripotent stem cell (iPSC) clones. The iPSC lines retained the KS patient mutation, and displayed normal karyotypes, pluripotency marker expression, and the ability to differentiate into the three germ layers.PMID:35550987 | DOI:10.1016/j.scr.2022.102799 (Source: Cell Research)
Source: Cell Research - May 13, 2022 Category: Cytology Authors: Tyson W Lager Junjun Zuo Md Suhail Alam Barbara Calhoun Kasturi Haldar Athanasia D Panopoulos Source Type: research
A gonadal mosaicism novel KMT2D mutation identified by haplotype construction and clone sequencing strategy
Clin Chim Acta. 2022 Apr 11:S0009-8981(22)00128-0. doi: 10.1016/j.cca.2022.04.008. Online ahead of print.ABSTRACTHere we reported a pedigree that gave birth to two characteristic clinical signs of Kabuki syndrome daughters. They had an intellectual disability with special facial features. Their eyebrows were relatively wide and the rear 1/3 of the eyebrows was light and sparse. Their eyes were long, narrow, valgus and strabismus. Their noses were broad at the root and flat at the tip. They also had skeletal dysplasia, mainly manifested in the short second knuckle of the little fingers of both hands. Genetic studies showed ...
Source: International Journal of Clinical Chemistry - April 14, 2022 Category: Chemistry Authors: Liangjie Guo Mengting Zhang Yue Gao Litao Qin Hailan Xia Lin Liu Hongdan Wang Source Type: research
Genes, Vol. 13, Pages 514: KMT2A: Umbrella Gene for Multiple Diseases
Vignoli
Elena Lesma
Cristina Gervasini
KMT2A (Lysine methyltransferase 2A) is a member of the epigenetic machinery, encoding a lysine methyltransferase responsible for the transcriptional activation through lysine 4 of histone 3 (H3K4) methylation. KMT2A has a crucial role in gene expression, thus it is associated to pathological conditions when found mutated. KMT2A germinal mutations are associated to Wiedemann–Steiner syndrome and also in patients with initial clinical diagnosis of several other chromatinopathies (i.e., Coffin–Siris syndromes, Kabuki syndrome, Cornelia De Lange syndrom...
Source: Genes - March 15, 2022 Category: Genetics & Stem Cells Authors: Silvia Castiglioni Elisabetta Di Fede Clara Bernardelli Antonella Lettieri Chiara Parodi Paolo Grazioli Elisa Adele Colombo Silvia Ancona Donatella Milani Emerenziana Ottaviano Elisa Borghi Valentina Massa Filippo Ghelma Aglaia Vignoli Elena Lesma Cristin Tags: Review Source Type: research
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
Conclusion
We conclude that ES should be ordered in cases of CDH+ when a specific diagnosis is not suspected and CNV analyses are negative. Our results also provide evidence in favour of phenotypic expansions involving CDH for genes associated with ALG12-congenital disorder of glycosylation, Rubinstein-Taybi syndrome, Fanconi anaemia, Coffin-Siris syndrome and FOXP1-related disorders. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - February 18, 2022 Category: Genetics & Stem Cells Authors: Scott, T. M., Campbell, I. M., Hernandez-Garcia, A., Lalani, S. R., Liu, P., Shaw, C. A., Rosenfeld, J. A., Scott, D. A. Tags: Developmental defects Source Type: research
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study
Inborn errors of immunity (IEI) are genetic disorders characterized by a wide spectrum of clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation. Among these, primary immune regulatory disorders (PIRDs) are mainly presenting with autoimmune manifestations, and autoimmune cytopenias (AICs) can be the first clinical sign. Significantly, AICs in patients with IEI often fail to respond to first-line therapy. In pediatric patients, autoimmune cytopenias can be red flags for IEI. However, for these cases precise indicators or parameters useful to suspect and screen for a ...
Source: Frontiers in Immunology - January 4, 2022 Category: Allergy & Immunology Source Type: research
GSE190514 Mouse primary hippocampal neural progenitor cell scRNA-seq from wild type and a Kmt2d-haploinsufficient model of Kabuki syndrome
Contributors : Giovanni A Carosso ; Gloria Shin ; Shijie C Zheng ; Genevieve Stein-O'Brien ; Jonathan J Augustin ; Jared Slosberg ; Briana Winer ; Hans T Bjornsson ; Loyal A Goff ; Kasper D HansenSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculus10x v3 single cell RNA-Seq of cultured primary hippocampal neural stem/progenitor cells (NPCs) (isolated by microdissection from E17 day embryos) from wild type or Kmt2d+/B-Geo mice (a haploinsufficiency model of Kabuki Syndrome). Cells are either undifferentiated (day0) or differentiated via growth factor withdrawl for 2, 4, or 8 days. (Sou...
Source: GEO: Gene Expression Omnibus - December 13, 2021 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada
CONCLUSIONS: Kabuki syndrome is a multidimensional disease which has substantial negative effects on physical, mental, emotional, and social aspects of health-related quality of life. This research adds to the limited existing body of literature on the clinical presentation of Kabuki syndrome and provides a novel perspective into the caregiver and adolescent perception of the burden of Kabuki syndrome.PMID:34843084 | DOI:10.1007/s12325-021-01953-x (Source: Adv Data)
Source: Adv Data - November 29, 2021 Category: Epidemiology Authors: Christina Theodore-Oklota Deborah S Hartman Deborah L Hoffman Hans T Bj örnsson Source Type: research
