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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.


ABSTRACT: The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. The syndrome is caused by a truncating variant in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene or by a 17q21.31 microdeletion encompassing KANSL1. Herein we describe a novel cohort of 45 individuals with KdVS of whom 33 have a 17q21.31 microdeletion and 12 a single-nucleotide variant (SNV) in KANSL1 (19 males, 26 females; age range 7 months to 50 years). We provide guidance about the potential pitfalls in the laboratory testing and emphasise the challenges of KANSL1 variant calling and DNA copy number analysis in the complex 17q21.31 region. Moreover, we present detailed phenotypic information, including neuropsychological features, that contribute to the broad phenotypic spectrum of the syndrome. Comparison of the phenotype of both the microdeletion and SNV patients does not show differences of clinical importance, stressing that haploinsufficiency of KANSL1 is sufficient to cause the full KdVS phenotype.

SUBMITTER: Koolen DA 

PROVIDER: S-EPMC4930086 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature

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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Koolen David A DA   Pfundt Rolph R   Linda Katrin K   Beunders Gea G   Veenstra-Knol Hermine E HE   Conta Jessie H JH   Fortuna Ana Maria AM   Gillessen-Kaesbach Gabriele G   Dugan Sarah S   Halbach Sara S   Abdul-Rahman Omar A OA   Winesett Heather M HM   Chung Wendy K WK   Dalton Marguerite M   Dimova Petia S PS   Mattina Teresa T   Prescott Katrina K   Zhang Hui Z HZ   Saal Howard M HM   Hehir-Kwa Jayne Y JY   Willemsen Marjolein H MH   Ockeloen Charlotte W CW   Jongmans Marjolijn C MC   Van der Aa Nathalie N   Failla Pinella P   Barone Concetta C   Avola Emanuela E   Brooks Alice S AS   Kant Sarina G SG   Gerkes Erica H EH   Firth Helen V HV   Õunap Katrin K   Bird Lynne M LM   Masser-Frye Diane D   Friedman Jennifer R JR   Sokunbi Modupe A MA   Dixit Abhijit A   Splitt Miranda M   Kukolich Mary K MK   McGaughran Julie J   Coe Bradley P BP   Flórez Jesús J   Nadif Kasri Nael N   Brunner Han G HG   Thompson Elizabeth M EM   Gecz Jozef J   Romano Corrado C   Eichler Evan E EE   de Vries Bert B A BB  

European journal of human genetics : EJHG 20150826 5


The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenit  ...[more]

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