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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?

SUBMITTER: van der Sluijs PJ 

PROVIDER: S-EPMC6752273 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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

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

Genetics in medicine : official journal of the American College of Medical Genetics 20181108 6

<h4>Purpose</h4>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-  ...[more]

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