Kabuki syndrome: international consensus diagnostic criteria
| Autor: | Norio Niikawa, C. T. R. M. Stumpel, Giuseppe Merla, Nobuhiko Okamoto, Albert E. Chudley, Siddharth Banka, Andrew W. Lindsley, Jaqueline Harris, Olaf Bodamer, Hiroshi Kawame, Margaret P. Adam, Noriko Miyake, Hans T. Bjornsson, Brendan C. Lanpher |
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| Přispěvatelé: | RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Adam, Mp, Banka, S, Bjornsson, Ht, Bodamer, O, Chudley, Ae, Harris, J, Kawame, H, Lanpher, Bc, Lindsley, Aw, Merla, G, Miyake, N, Okamoto, N, Stumpel, Ct, Niikawa, N |
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Consensus 030105 genetics & heredity 03 medical and health sciences Cupped ears EARS Intellectual Disability Intellectual disability Genetics medicine Humans Abnormalities Multiple KDM6A Genetics (clinical) Likely pathogenic Histone Demethylases Short columella MUTATIONS business.industry Molecular genetic testing MAKE-UP-SYNDROME KMT2D medicine.disease Hematologic Diseases Dermatology Neoplasm Proteins DNA-Binding Proteins 030104 developmental biology medicine.anatomical_structure Vestibular Diseases Long palpebral fissure Face Mutation Muscle Hypotonia Female Eyelid business Kabuki syndrome |
| Zdroj: | Journal of Medical Genetics, 56(2), 89-95. BMJ Publishing Group Kabuki Syndrome Medical Advisory Board 2018, ' Kabuki syndrome : international consensus diagnostic criteria ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2018-105625 |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmedgenet-2018-105625 |
| Popis: | BackgroundKabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic criteria for KS, particularly when molecular genetic testing is equivocal.MethodsAn international group of experts created consensus diagnostic criteria for KS. Systematic PubMed searches returned 70 peer-reviewed publications in which at least one individual with molecularly confirmed KS was reported. The clinical features of individuals with known mutations were reviewed.ResultsThe authors propose that a definitive diagnosis can be made in an individual of any age with a history of infantile hypotonia, developmental delay and/or intellectual disability, and one or both of the following major criteria: (1) a pathogenic or likely pathogenic variant in KMT2D or KDM6A; and (2) typical dysmorphic features (defined below) at some point of life. Typical dysmorphic features include long palpebral fissures with eversion of the lateral third of the lower eyelid and two or more of the following: (1) arched and broad eyebrows with the lateral third displaying notching or sparseness; (2) short columella with depressed nasal tip; (3) large, prominent or cupped ears; and (4) persistent fingertip pads. Further criteria for a probable and possible diagnosis, including a table of suggestive clinical features, are presented.ConclusionAs targeted therapies for KS are being developed, it is important to be able to make the correct diagnosis, either with or without molecular genetic confirmation. |
| Databáze: | OpenAIRE |
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