Cargando…

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report

Kabuki syndrome (KS) is an autosomal dominant genetic disorder in which most cases are caused by de novo mutations. KS type 1 is caused by mutations in KMT2D (OMIM: #147920) and is more common. KS type 2 is caused by mutations in KDM6A (OMIM: #300867). Both genes encode proteins that modify histones...

Descripción completa

Detalles Bibliográficos
Autores principales:	Aristizábal, Erica, Diaz-Ordóñez, Lorena, Candelo, Estephania, Pachajoa, Harry
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502069/ https://www.ncbi.nlm.nih.gov/pubmed/34675602 http://dx.doi.org/10.2147/TACG.S317723

Ejemplares similares

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report
por: Díaz-Ordoñez, Lorena, et al.
Publicado: (2019)

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome
por: Ríos-Serna, Lady J, et al.
Publicado: (2018)

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
por: Candelo, Estephania, et al.
Publicado: (2019)

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review
por: Diaz-Ordoñez, Lorena, et al.
Publicado: (2022)

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
por: Luperchio, Teresa Romeo, et al.
Publicado: (2019)

Persistent Hypoglycemia and Hyperinsulinism in a Patient With KMT2D-Associated Kabuki Syndrome
por: Nunez Stosic, Mariana, et al.
Publicado: (2023)

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
por: Cuvertino, Sara, et al.
Publicado: (2020)

A novel KMT2D mutation resulting in Kabuki syndrome: A case report
por: Lu, Jun, et al.
Publicado: (2016)

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations
por: Yi, Sheng, et al.
Publicado: (2023)

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
por: Cuvertino, Sara, et al.
Publicado: (2020)

Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing
por: Li, Shuolin, et al.
Publicado: (2022)

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
por: Ramirez-Montaño, Diana, et al.
Publicado: (2019)

Frequency of polymorphisms in the CYP2C9, VKORC1, and CYP4F2 genes related to the metabolism of Warfarin in healthy donors from Cali, Colombia
por: Giraldo-Ocampo, Sebastian, et al.
Publicado: (2023)

A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation
por: Candelo, Estephania, et al.
Publicado: (2021)

First Case Report of Prader–Willi-Like Syndrome in Colombia
por: Candelo, Estephania, et al.
Publicado: (2018)

Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory
por: Leal, Andrés Felipe, et al.
Publicado: (2022)

Novel ATP7A gene mutation in a patient with Menkes disease
por: Caicedo-Herrera, Gabriela, et al.
Publicado: (2018)

The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration
por: Schwenty-Lara, Janina, et al.
Publicado: (2020)

Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners
por: Enkhmandakh, Badam, et al.
Publicado: (2022)

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
por: Lepri, Francesca Romana, et al.
Publicado: (2017)

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
por: Piro, Ettore, et al.
Publicado: (2020)

The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report
por: Candelo, Estephania, et al.
Publicado: (2021)

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report
por: Sakata, Sonoko, et al.
Publicado: (2017)

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report
por: Moon, Jung-Eun, et al.
Publicado: (2018)

Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole
por: Díaz-Ordóñez, Lorena, et al.
Publicado: (2021)

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs
por: Porntaveetus, Thantrira, et al.
Publicado: (2018)

Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review
por: Xin, Chengqi, et al.
Publicado: (2018)

Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
por: Timothy, Leander D., et al.
Publicado: (2019)

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
por: Mısırlıgil, Mina, et al.
Publicado: (2021)

Systemic Bevacizumab for Recurrent Respiratory Papillomatosis: A Scoping Review from 2009 to 2022
por: Torres-Canchala, Laura, et al.
Publicado: (2022)

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report
por: Duque-Cordoba, Paola Andrea, et al.
Publicado: (2023)

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities
por: Candelo, Estephania, et al.
Publicado: (2019)

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
por: Diaz-Lombana, Natalia, et al.
Publicado: (2023)

Kabuki Syndrome with Cleft Palate
por: Paik, Joo Myong, et al.
Publicado: (2016)

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
por: Shangguan, Huakun, et al.
Publicado: (2019)

Anesthesia Management in a Patient with Kabuki Syndrome
por: Atalay, Yunus Oktay, et al.
Publicado: (2014)

Kabuki Syndrome: A Rare Clinical Presentation
por: Wankar, Abhishek D.
Publicado: (2020)

Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
por: Guo, Wei, et al.
Publicado: (2020)

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
por: Ng, Sarah B., et al.
Publicado: (2010)

Kabuki syndrome and its anaesthetic management
por: Roy, Debashis, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_48qpa5jcdab10btq09e0b0pgcb