Редактирование: KANSL1

KAT8 regulatory NSL complex subunit 1 (MLL1/MLL complex subunit KANSL1) (MSL1 homolog 1) (hMSL1v1) (NSL complex protein NSL1) (Non-specific lethal 1 homolog) [CENP-36] [KIAA1267] [MSL1V1] [NSL1]

==Publications==

{{medline-entry
|title=Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/27852077
|abstract=Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing [[CRHR1]], [[MAPT]], IMP5, [[STH]], and [[KANSL1]], or by an intragenic [[KANSL1]] mutation. The majority of the patients reported are pediatric or young adults, and long-term studies able to define the prognosis of the disease are lacking. Here, we report a patient in the fourth decade misdiagnosed in the past as classical Ehlers-Danlos syndrome for the presence of generalized joint hypermobility, who carried a 546-kb deletion in 17q21.31, and compare his phenotype with those of the few KdS adults (aged >18 years) described so far. We observed a favorable prognosis of epilepsy and cardiovascular signs and reduction of joint hypermobility with age, thus providing insight into the natural history of the disorder.
|mesh-terms=* Abnormalities, Multiple
* Adolescent
* Adult
* Aging
* Child
* Chromosome Deletion
* Chromosomes, Human, Pair 17
* Delayed Diagnosis
* Developmental Disabilities
* Diagnostic Errors
* Ehlers-Danlos Syndrome
* Epilepsy
* Female
* Humans
* Intellectual Disability
* Male
* Middle Aged
* Phenotype
* Prognosis
* Young Adult

|full-text-url=https://sci-hub.do/10.1159/000452724
}}