Síndrome de Kabuki (Kabuki Syndrome)

A síndrome de Kabuki (SK) é um distúrbio do desenvolvimento raro, composto principalmente por atraso no desenvolvimento, hipotonia e um dismorfismo claramente definido: alongamento das estruturas ao redor os olhos, um nariz encurtado e deprimido, afinamento do lábio superior e espessamento do lábio inferior,orelhas grandes e proeminentes, hipertricose e escoliose. Outras características incluem deficiências físicas crescimento, anomalias cardíacas, gastrointestinais e renais, bem como problemas comportamentais variáveis, incluindo recursos autistas. Os pacientes apresentam aspectos oculares externos característicos. Manifestações neurológicas e cardíacas podem ser encontradas em mais de 50% dos pacientes com a síndrome de Kabuki. Variantes patogênicas / prováveis patogênicas de novo ou herdadas no gene KMT2D são a causa mais comum de SK e representam até 75% dos pacientes. Variantes na causa KDM 6Aaté 5% dos casos (herança dominante ligada ao X), enquanto a etiologia de cerca de 20% dos casos permanece desconhecido. Os critérios diagnósticos atuais de KS incluem hipotonia durante a infância, atraso no desenvolvimento e / ou deficiência intelectual, dismorfismo típico e patogênico / provável patogênico confirmado

variante em KMT2D ou KDM6A. O cuidado de pacientes com KS inclui o controle físico e psicomotor desenvolvimento durante a infância, reabilitação e cuidados multiespecialistas.

■ Kabuki syndrome – clinical review with molecular aspects

Snir Boniel, Krystyna Szymańska, Robert Śmigiel, Krzysztof Szczałuba

Genes (Basel) 2021 Apr; 12(4): 468.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8064399/

■ Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao et al

Orphanet J Rare Dis. 2021; 16: 66

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7866879/

■ Neonatal hyperinsulinemic hypoglycemia: case reporto f Kabuki syndrome due to a novel KMT2D splicing-site mutation

Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Antona et al

Ital J Pediatr. 2020; 46: 136.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7499940/

■ MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome

Alessandra Fasciani, Sarah D’Annunzio, Vittoria Poli, et alNat Genet. 2020 Dec 1; 52(12): 1397–1411

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7610431/

■ Kabuki syndrome: a rare clinical presentation

Abhishek D. Wankar

Ann Indian Acad Neurol. 2020 Nov-Dec; 23(6): 828–829

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900720/

■ Large angle congenital esotropia in a child with Kabuki syndrome: a case report

Talaat Hamdi, Ahmed Basheikh

Cureus. 2020 Jun; 12(6): e8445

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336651/

■ Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome

Christina Theodore‐Oklota, Shayna Egan, Maggie Paulich, et al

Am J Med Genet A. 2020 Jul; 182(7): 1592–1600

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383624/

■ Diagnosis and management of hip dislocation in patients with Kabuki syndrome

Chaemoon Lim, Sung-Taek Jung, Chang Ho Shin et al

Clin Orthop Surg. 2019 Dec; 11(4): 474–481

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6867925/

■ Anatomical and functional abnormalities on MRI in Kabuki syndrome

Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître et al

Neuroimage Clin. 2019; 21: 101610

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413468/

■ Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

Kai Lee Yap, Amy E. Knight Johnson, David Fischer et al

Genet Med. 2019 Jan; 21(1): 233–242

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7597849/

■ Inhibition of Notch signaling rescues cardiovascular development in Kabuki syndrome

Maria de los Angeles Serrano, Bradley L. Demarest, Tarlynn Tone-Pah-Hote et al

PLoS Biol. 2019 Sep; 17(9): e300008

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743796/

■ Dissecting KMT2D missense mutations in Kabuki syndrome patients

Dario Cocciadiferro, Bartolomeo Augello, Pasquelena De Nittis et al

Hum Mol Genet. 2018 Nov 1; 27(21): 3651–366

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6488975/

■ A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report

Jung-Eun Moon, Su-Jeong Lee, Cheol Woo Ko

BMC Med Genet. 2018; 19: 102

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007063/

■ Carotid artery occlusion in Kabuki syndrome: case report and literature review

Luana A. M. Gatto, Luis Henrique A. Sousa, Gelson Luis Koppe, Zeferino Demartini, Junior

Surg Neurol Int. 2017; 8: 88

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5461567/

■ Capillary malformations in a child with Kabuki syndrome: a case report

Nikki C. Geers, H. Bing Thio, Wim J.A. de Kort

JAAD Case Rep. 2019 Jun; 5(6): 560–562

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581967/

■ Diffuse adenomatosis and hepatocelular carcinoma treated with liver transplantation in na adolescente female with Kabuki syndrome with a novel KMT2D gene mutation

L D Timothy, H D Lehrke, V S Chandan et al

Case Reports in Pediatrics 2019: article ID 7983824

https://www.hindawi.com/journals/cripe/2019/7983824/

■ Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Nara Sobreira, Martha Brucato, Li Zhang, Christine Ladd-Acosta et al

Eur J Hum Genet. 2017 Dec; 25(12): 1335–1344

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865196/

■ Coinheritence of novel mutations in SCN1A causing GEFS+ and in KDM6A causing Kabuki syndrome in a family

J Kim, C G Lee

Am Clin Lab Sci 2017, vol 47 (2): 229-235

http://www.annclinlabsci.org/content/47/2/229.full

■ A child with Kabuki syndrome and autismo spectrum disorder