Portal de investigación
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
Fecha de publicación:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- van der Sluijs, PJ
- Jansen, S
- Vergano, SA
- Adachi-Fukuda, M
- Alanay, Y
- AlKindy, A
- Baban, A
- Bayat, A
- Beck-Wodl, 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
- Lopez-Gonzalez, V
- Maas, S
- Mancini, GMS
- Marcelis, C
- 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
- Pasquier, L
- Pottinger, C
- Riehmer, V
- Robertson, SP
- Roifman, M
- Rooryck, C
- Ropers, FG
- Ruivenkamp, CAL
- Sagiroglu, MS
- Sallevelt, SCEH
- Calvo, AS
- 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
Grupos
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 (ARID1BCSS) 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 webbased 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 ARID1BID 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.
Datos de la publicación
- ISSN/ISSNe:
- 1098-3600, 1530-0366
- Tipo:
- Article
- Páginas:
- 1295-1307
- Factor de Impacto:
- 4,465 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
GENETICS IN MEDICINE NATURE PUBLISHING GROUP
Citas Recibidas en Web of Science: 64
Documentos
- No hay documentos
Filiaciones
Keywords
- ARID1B; Coffin-Siris syndrome; intellectual disability; bias
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Cita
van der Sluijs PJ,Jansen S,Vergano SA,Adachi M,Alanay Y,AlKindy A,Baban A,Bayat A,Beck S,Berry K,Bijlsma EK,Bok LA,Brouwer A,van der Burgt I,Campeau PM,Canham N,Chrzanowska K,Chu YWY,Chung BHY,Dahan K,De Rademaeker M,Destree A,Dudding T,Earl R,Elcioglu N,Elias ER,Fagerberg C,Gardham A,Gener B,Gerkes EH,Grasshoff U,van A,Heitink KR,Herkert JC,den NS,Horn D,Hunt D,Kant SG,Kato M,Kayserili H,Kersseboom R,Kilic E,Krajewska M,Lammers K,Laulund LW,Lederer D,Lees M,Lopez 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 B,Okamoto N,Olminkhof SNM,Orellana C,Pasquier L,Pottinger C,Riehmer V,Robertson SP,Roifman M,Rooryck C,Ropers FG,Rosello M,Ruivenkamp C,Sagiroglu MS,Sallevelt S,Calvo AS,Simsek PO,Soares G,Solaeche L,Sonmez FM,Splitt M,Steenbeek D,Stegmann A,Stumpel CTRM,Tanabe S,Uctepe E,Utine GE,Veenstra HE,Venkateswaran S,Vilain C,Vincent C,Vulto AT,Wheeler P,Wilson GN,Wilson LC,Wollnik B,Kosho T,Wieczorek D,Eichler E,Pfundt R,de Vries B,Clayton J,Santen G. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019. 21. (6):p. 1295-1307. IF:8,904. (1).