The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Pleuntje J van der Sluijs; Sandra Jansen; Samantha A Vergano; Miho Adachi-Fukuda; Yasemin Alanay; Adila AlKindy; Anwar Baban; Allan Bayat; Stefanie Beck-Wödl; Katherine Berry; Emilia K Bijlsma; Levinus A Bok; Alwin F J Brouwer; Ineke van der Burgt; Philippe M Campeau; Natalie Canham; Krystyna Chrzanowska; Yoyo W Y Chu; Brain H Y Chung; Karin Dahan; Marjan De Rademaeker; Anne Destree; Tracy Dudding-Byth; Rachel Earl; Nursel Elcioglu; Ellen R Elias; Christina Fagerberg; Alice Gardham; Blanca Gener; Erica H Gerkes; Ute Grasshoff; Arie van Haeringen; Karin R Heitink; Johanna C Herkert; Nicolette S den Hollander; Denise Horn; David Hunt; Sarina G Kant; Mitsuhiro Kato; Hülya Kayserili; Rogier Kersseboom; Esra Kilic; Malgorzata Krajewska-Walasek; Kylin Lammers; Lone W Laulund; Damien Lederer; Melissa Lees; Vanesa López-González; Saskia Maas; Grazia M S Mancini; Carlo Marcelis; Francisco Martinez; Isabelle Maystadt; Marianne McGuire; Shane McKee; Sarju Mehta; Kay Metcalfe; Jeff Milunsky; Seiji Mizuno; John B Moeschler; Christian Netzer; Charlotte W Ockeloen; Barbara Oehl-Jaschkowitz; Nobuhiko Okamoto; Sharon N M Olminkhof; Carmen Orellana; Laurent Pasquier; Caroline Pottinger; Vera Riehmer; Stephen P Robertson; Maian Roifman; Caroline Rooryck; Fabienne G Ropers; Monica Rosello; Claudia A L Ruivenkamp; Mahmut S Sagiroglu; Suzanne C E H Sallevelt; Amparo Sanchis Calvo; Pelin O Simsek-Kiper; Gabriela Soares; Lucia Solaeche; Fatma Mujgan Sonmez; Miranda Splitt; Duco Steenbeek; Alexander P A Stegmann; Constance T R M Stumpel; Saori Tanabe; Eyyup Uctepe; G Eda Utine; Hermine E Veenstra-Knol; Sunita Venkateswaran; Catheline Vilain; Catherine Vincent-Delorme; Anneke T Vulto-van Silfhout; Patricia Wheeler; Golder N Wilson; Louise C Wilson; Bernd Wollnik; Tomoki Kosho; Dagmar Wieczorek; Evan Eichler; Rolph Pfundt; Bert B A de Vries; Jill Clayton-Smith; Gijs W E Santen

doi:10.1038/s41436-018-0330-z

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Pleuntje J van der Sluijs
, Sandra Jansen
, Samantha A Vergano
, Miho Adachi-Fukuda
, Yasemin Alanay
, Adila AlKindy
, Anwar Baban
, Allan Bayat
, Stefanie Beck-Wödl
, Katherine Berry
, Emilia K Bijlsma
, Levinus A Bok
, Alwin F J Brouwer
, Ineke van der Burgt
, Philippe M Campeau
, Natalie Canham
, Krystyna Chrzanowska
, Yoyo W Y Chu
, Brain H Y Chung
, Karin Dahan

Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R Heitink, Johanna C Herkert, Nicolette S den Hollander, Denise Horn, David Hunt, Sarina G Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W Laulund, Damien Lederer, Melissa Lees, Vanesa López-González, Saskia Maas, Grazia M S Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B Moeschler, Christian Netzer, Charlotte W Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N M Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P Robertson, Maian Roifman, Caroline Rooryck, Fabienne G Ropers, Monica Rosello, Claudia A L Ruivenkamp, Mahmut S Sagiroglu, Suzanne C E H Sallevelt, Amparo Sanchis Calvo, Pelin O Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P A Stegmann, Constance T R M Stumpel, Saori Tanabe, Eyyup Uctepe, G Eda Utine, Hermine E Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T Vulto-van Silfhout, Patricia Wheeler, Golder N Wilson, Louise C Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B A de Vries, Jill Clayton-Smith, Gijs W E Santen

Research output: Contribution to journal › Article › Research › peer-review

Abstract

PURPOSE: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.

METHODS: Clinicians entered clinical data in an extensive web-based survey.

RESULTS: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.

CONCLUSION: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.

Original language	English
Pages (from-to)	1295-1307
Number of pages	13
Journal	Genetics in Medicine
Volume	21
Issue number	6
DOIs	https://doi.org/10.1038/s41436-018-0330-z
Publication status	Published - Jun 2019

Keywords

Abnormalities, Multiple/genetics
Adolescent
Adult
Child
Child, Preschool
Chromosomal Proteins, Non-Histone/genetics
DNA-Binding Proteins/genetics
Exome
Face/abnormalities
Female
Genetic Association Studies/methods
Genetic Variation/genetics
Hand Deformities, Congenital/genetics
Humans
Infant
Infant, Newborn
Intellectual Disability/genetics
Male
Micrognathism/genetics
Middle Aged
Mutation
Neck/abnormalities
Penetrance
Transcription Factors/genetics

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10.1038/s41436-018-0330-z

Cite this

van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wödl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., ... Santen, G. W. E. (2019). The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genetics in Medicine, 21(6), 1295-1307. https://doi.org/10.1038/s41436-018-0330-z

@article{4b44a0b650b649269ae91e1209256228,

title = "The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome",

abstract = "PURPOSE: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.METHODS: Clinicians entered clinical data in an extensive web-based survey.RESULTS: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.CONCLUSION: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.",

keywords = "Abnormalities, Multiple/genetics, Adolescent, Adult, Child, Child, Preschool, Chromosomal Proteins, Non-Histone/genetics, DNA-Binding Proteins/genetics, Exome, Face/abnormalities, Female, Genetic Association Studies/methods, Genetic Variation/genetics, Hand Deformities, Congenital/genetics, Humans, Infant, Infant, Newborn, Intellectual Disability/genetics, Male, Micrognathism/genetics, Middle Aged, Mutation, Neck/abnormalities, Penetrance, Transcription Factors/genetics",

author = "\{van der Sluijs\}, \{Pleuntje J\} and Sandra Jansen and Vergano, \{Samantha A\} and Miho Adachi-Fukuda and Yasemin Alanay and Adila AlKindy and Anwar Baban and Allan Bayat and Stefanie Beck-W{\"o}dl and Katherine Berry and Bijlsma, \{Emilia K\} and Bok, \{Levinus A\} and Brouwer, \{Alwin F J\} and \{van der Burgt\}, Ineke and Campeau, \{Philippe M\} and Natalie Canham and Krystyna Chrzanowska and Chu, \{Yoyo W Y\} and Chung, \{Brain H Y\} and Karin Dahan and \{De Rademaeker\}, Marjan and Anne Destree and Tracy Dudding-Byth and Rachel Earl and Nursel Elcioglu and Elias, \{Ellen R\} and Christina Fagerberg and Alice Gardham and Blanca Gener and Gerkes, \{Erica H\} and Ute Grasshoff and \{van Haeringen\}, Arie and Heitink, \{Karin R\} and Herkert, \{Johanna C\} and \{den Hollander\}, \{Nicolette S\} and Denise Horn and David Hunt and Kant, \{Sarina G\} and Mitsuhiro Kato and H{\"u}lya Kayserili and Rogier Kersseboom and Esra Kilic and Malgorzata Krajewska-Walasek and Kylin Lammers and Laulund, \{Lone W\} and Damien Lederer and Melissa Lees and Vanesa L{\'o}pez-Gonz{\'a}lez and Saskia Maas and Mancini, \{Grazia M S\} and Carlo Marcelis and Francisco Martinez and Isabelle Maystadt and Marianne McGuire and Shane McKee and Sarju Mehta and Kay Metcalfe and Jeff Milunsky and Seiji Mizuno and Moeschler, \{John B\} and Christian Netzer and Ockeloen, \{Charlotte W\} and Barbara Oehl-Jaschkowitz and Nobuhiko Okamoto and Olminkhof, \{Sharon N M\} and Carmen Orellana and Laurent Pasquier and Caroline Pottinger and Vera Riehmer and Robertson, \{Stephen P\} and Maian Roifman and Caroline Rooryck and Ropers, \{Fabienne G\} and Monica Rosello and Ruivenkamp, \{Claudia A L\} and Sagiroglu, \{Mahmut S\} and Sallevelt, \{Suzanne C E H\} and \{Sanchis Calvo\}, Amparo and Simsek-Kiper, \{Pelin O\} and Gabriela Soares and Lucia Solaeche and Sonmez, \{Fatma Mujgan\} and Miranda Splitt and Duco Steenbeek and Stegmann, \{Alexander P A\} and Stumpel, \{Constance T R M\} and Saori Tanabe and Eyyup Uctepe and Utine, \{G Eda\} and Veenstra-Knol, \{Hermine E\} and Sunita Venkateswaran and Catheline Vilain and Catherine Vincent-Delorme and \{Vulto-van Silfhout\}, \{Anneke T\} and Patricia Wheeler and Wilson, \{Golder N\} and Wilson, \{Louise C\} and Bernd Wollnik and Tomoki Kosho and Dagmar Wieczorek and Evan Eichler and Rolph Pfundt and \{de Vries\}, \{Bert B A\} and Jill Clayton-Smith and Santen, \{Gijs W E\}",

year = "2019",

month = jun,

doi = "10.1038/s41436-018-0330-z",

language = "English",

volume = "21",

pages = "1295--1307",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Elsevier B.V.",

number = "6",

}

van der Sluijs, PJ, Jansen, S, Vergano, SA, Adachi-Fukuda, M, Alanay, Y, AlKindy, A, Baban, A, Bayat, A, Beck-Wödl, S, Berry, K, Bijlsma, EK, Bok, LA, Brouwer, AFJ, van der Burgt, I, Campeau, PM, Canham, N, Chrzanowska, K, Chu, YWY, Chung, BHY, Dahan, K, De Rademaeker, M, Destree, A, Dudding-Byth, T, Earl, R, Elcioglu, N, Elias, ER, Fagerberg, C, Gardham, A, Gener, B, Gerkes, EH, Grasshoff, U, van Haeringen, A, Heitink, KR, Herkert, JC, den Hollander, NS, Horn, D, Hunt, D, Kant, SG, Kato, M, Kayserili, H, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, LW, Lederer, D, Lees, M, López-González, V, Maas, S, Mancini, GMS, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, JB, Netzer, C, Ockeloen, CW, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, SNM, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, SP, Roifman, M, Rooryck, C, Ropers, FG, Rosello, M, Ruivenkamp, CAL, Sagiroglu, MS, Sallevelt, SCEH, Sanchis Calvo, A, Simsek-Kiper, PO, Soares, G, Solaeche, L, Sonmez, FM, Splitt, M, Steenbeek, D, Stegmann, APA, Stumpel, CTRM, Tanabe, S, Uctepe, E, Utine, GE, Veenstra-Knol, HE, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, AT, Wheeler, P, Wilson, GN, Wilson, LC, Wollnik, B, Kosho, T, Wieczorek, D, Eichler, E, Pfundt, R, de Vries, BBA, Clayton-Smith, J & Santen, GWE 2019, 'The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome', Genetics in Medicine, vol. 21, no. 6, pp. 1295-1307. https://doi.org/10.1038/s41436-018-0330-z

TY - JOUR

T1 - The ARID1B spectrum in 143 patients

T2 - from nonsyndromic intellectual disability to Coffin-Siris syndrome

AU - van der Sluijs, Pleuntje J

AU - Jansen, Sandra

AU - Vergano, Samantha A

AU - Adachi-Fukuda, Miho

AU - Alanay, Yasemin

AU - AlKindy, Adila

AU - Baban, Anwar

AU - Bayat, Allan

AU - Beck-Wödl, Stefanie

AU - Berry, Katherine

AU - Bijlsma, Emilia K

AU - Bok, Levinus A

AU - Brouwer, Alwin F J

AU - van der Burgt, Ineke

AU - Campeau, Philippe M

AU - Canham, Natalie

AU - Chrzanowska, Krystyna

AU - Chu, Yoyo W Y

AU - Chung, Brain H Y

AU - Dahan, Karin

AU - De Rademaeker, Marjan

AU - Destree, Anne

AU - Dudding-Byth, Tracy

AU - Earl, Rachel

AU - Elcioglu, Nursel

AU - Elias, Ellen R

AU - Fagerberg, Christina

AU - Gardham, Alice

AU - Gener, Blanca

AU - Gerkes, Erica H

AU - Grasshoff, Ute

AU - van Haeringen, Arie

AU - Heitink, Karin R

AU - Herkert, Johanna C

AU - den Hollander, Nicolette S

AU - Horn, Denise

AU - Hunt, David

AU - Kant, Sarina G

AU - Kato, Mitsuhiro

AU - Kayserili, Hülya

AU - Kersseboom, Rogier

AU - Kilic, Esra

AU - Krajewska-Walasek, Malgorzata

AU - Lammers, Kylin

AU - Laulund, Lone W

AU - Lederer, Damien

AU - Lees, Melissa

AU - López-González, Vanesa

AU - Maas, Saskia

AU - Mancini, Grazia M S

AU - Marcelis, Carlo

AU - Martinez, Francisco

AU - Maystadt, Isabelle

AU - McGuire, Marianne

AU - McKee, Shane

AU - Mehta, Sarju

AU - Metcalfe, Kay

AU - Milunsky, Jeff

AU - Mizuno, Seiji

AU - Moeschler, John B

AU - Netzer, Christian

AU - Ockeloen, Charlotte W

AU - Oehl-Jaschkowitz, Barbara

AU - Okamoto, Nobuhiko

AU - Olminkhof, Sharon N M

AU - Orellana, Carmen

AU - Pasquier, Laurent

AU - Pottinger, Caroline

AU - Riehmer, Vera

AU - Robertson, Stephen P

AU - Roifman, Maian

AU - Rooryck, Caroline

AU - Ropers, Fabienne G

AU - Rosello, Monica

AU - Ruivenkamp, Claudia A L

AU - Sagiroglu, Mahmut S

AU - Sallevelt, Suzanne C E H

AU - Sanchis Calvo, Amparo

AU - Simsek-Kiper, Pelin O

AU - Soares, Gabriela

AU - Solaeche, Lucia

AU - Sonmez, Fatma Mujgan

AU - Splitt, Miranda

AU - Steenbeek, Duco

AU - Stegmann, Alexander P A

AU - Stumpel, Constance T R M

AU - Tanabe, Saori

AU - Uctepe, Eyyup

AU - Utine, G Eda

AU - Veenstra-Knol, Hermine E

AU - Venkateswaran, Sunita

AU - Vilain, Catheline

AU - Vincent-Delorme, Catherine

AU - Vulto-van Silfhout, Anneke T

AU - Wheeler, Patricia

AU - Wilson, Golder N

AU - Wilson, Louise C

AU - Wollnik, Bernd

AU - Kosho, Tomoki

AU - Wieczorek, Dagmar

AU - Eichler, Evan

AU - Pfundt, Rolph

AU - de Vries, Bert B A

AU - Clayton-Smith, Jill

AU - Santen, Gijs W E

PY - 2019/6

Y1 - 2019/6

N2 - PURPOSE: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.METHODS: Clinicians entered clinical data in an extensive web-based survey.RESULTS: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.CONCLUSION: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.

AB - PURPOSE: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.METHODS: Clinicians entered clinical data in an extensive web-based survey.RESULTS: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.CONCLUSION: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.

KW - Abnormalities, Multiple/genetics

KW - Adolescent

KW - Adult

KW - Child

KW - Child, Preschool

KW - Chromosomal Proteins, Non-Histone/genetics

KW - DNA-Binding Proteins/genetics

KW - Exome

KW - Face/abnormalities

KW - Female

KW - Genetic Association Studies/methods

KW - Genetic Variation/genetics

KW - Hand Deformities, Congenital/genetics

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Intellectual Disability/genetics

KW - Male

KW - Micrognathism/genetics

KW - Middle Aged

KW - Mutation

KW - Neck/abnormalities

KW - Penetrance

KW - Transcription Factors/genetics

U2 - 10.1038/s41436-018-0330-z

DO - 10.1038/s41436-018-0330-z

M3 - Article

C2 - 30349098

SN - 1098-3600

VL - 21

SP - 1295

EP - 1307

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 6

ER -

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Abstract

Keywords

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