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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-11-08 , DOI: 10.1038/s41436-018-0330-z
Pleuntje J van der Sluijs 1 , Sandra Jansen 2 , Samantha A Vergano 3 , Miho Adachi-Fukuda 4 , Yasemin Alanay 5 , Adila AlKindy 6 , Anwar Baban 7 , Allan Bayat 8 , Stefanie Beck-Wödl 9 , Katherine Berry 10 , Emilia K Bijlsma 1 , Levinus A Bok 11 , Alwin F J Brouwer 12 , Ineke van der Burgt 13 , Philippe M Campeau 14 , Natalie Canham 15, 16 , Krystyna Chrzanowska 17 , Yoyo W Y Chu 18 , Brain H Y Chung 18 , Karin Dahan 19 , Marjan De Rademaeker 20 , Anne Destree 19 , Tracy Dudding-Byth 21 , Rachel Earl 22 , Nursel Elcioglu 23 , Ellen R Elias 24 , Christina Fagerberg 25 , Alice Gardham 15 , Blanca Gener 26 , Erica H Gerkes 27 , Ute Grasshoff 9 , Arie van Haeringen 1 , Karin R Heitink 28 , Johanna C Herkert 27 , Nicolette S den Hollander 1 , Denise Horn 29 , David Hunt 30 , Sarina G Kant 1 , Mitsuhiro Kato 31 , Hülya Kayserili 32 , Rogier Kersseboom 33 , Esra Kilic 34 , Malgorzata Krajewska-Walasek 17 , Kylin Lammers 35 , Lone W Laulund 36 , Damien Lederer 19 , Melissa Lees 37 , Vanesa López-González 38 , Saskia Maas 39 , Grazia M S Mancini 33 , Carlo Marcelis 2 , Francisco Martinez 40 , Isabelle Maystadt 19 , Marianne McGuire 41 , Shane McKee 42 , Sarju Mehta 43 , Kay Metcalfe 44 , Jeff Milunsky 45 , Seiji Mizuno 46 , John B Moeschler 47 , Christian Netzer 48 , Charlotte W Ockeloen 2 , Barbara Oehl-Jaschkowitz 49 , Nobuhiko Okamoto 50 , Sharon N M Olminkhof 51 , Carmen Orellana 40 , Laurent Pasquier 52 , Caroline Pottinger 53 , Vera Riehmer 48 , Stephen P Robertson 54 , Maian Roifman 55, 56 , Caroline Rooryck 57 , Fabienne G Ropers 58 , Monica Rosello 40 , Claudia A L Ruivenkamp 1 , Mahmut S Sagiroglu 59 , Suzanne C E H Sallevelt 60 , Amparo Sanchis Calvo 61 , Pelin O Simsek-Kiper 62 , Gabriela Soares 63 , Lucia Solaeche 64 , Fatma Mujgan Sonmez 65 , Miranda Splitt 66 , Duco Steenbeek 28 , Alexander P A Stegmann 60 , Constance T R M Stumpel 60 , Saori Tanabe 67 , Eyyup Uctepe 68 , G Eda Utine 62 , Hermine E Veenstra-Knol 27 , Sunita Venkateswaran 69 , Catheline Vilain 70, 71 , Catherine Vincent-Delorme 72 , Anneke T Vulto-van Silfhout 2 , Patricia Wheeler 73 , Golder N Wilson 74 , Louise C Wilson 37 , Bernd Wollnik 75 , Tomoki Kosho 76 , Dagmar Wieczorek 77 , Evan Eichler 78 , Rolph Pfundt 2 , Bert B A de Vries 2 , Jill Clayton-Smith 44 , Gijs W E Santen 1
Affiliation  

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.

中文翻译:

143 例患者的 ARID1B 谱:从非综合征性智力残疾到 Coffin-Siris 综合征。

目的 ARID1B 中的致病性变异是大规模外显子组测序研究确定的智力障碍 (ID) 的最常见原因之一。迄今为止发表的大多数研究都描述了临床诊断的 Coffin-Siris 患者 (ARID1B-CSS),目前尚不清楚这些数据是否代表通过无偏 ID 队列 (ARID1B-ID) 测序确定的患者。因此,我们试图确定 ARID1B-ID 和 ARID1B-CSS 之间的基因型和表型差异。同时,我们研究了不同的表型报告方法的效果。方法 临床医生在广泛的基于网络的调查中输入临床数据。结果 包括 79 名 ARID1B-CSS 和 64 名 ARID1B-ID 患者。CSS 相关的畸形特征,例如浓眉、长睫毛、浓密的鼻翼、长和/或宽人中,在 ARID1B-CSS 患者中观察到小指甲和小或缺失的第五远端指骨和多毛症的发生率明显更高(p < 0.001)。没有发现其他显着差异。结论 ARID1B-ID 和 ARID1B-CSS 患者之间只有微小的差异。ARID1B 相关疾病似乎由一个谱系组成,应该对患者进行类似的管理。我们证明了没有明确选择报告特征缺失的数据收集方法(例如大多数基于人类表型本体的方法)往往会低估基因相关特征。结论 ARID1B-ID 和 ARID1B-CSS 患者之间只有微小的差异。ARID1B 相关疾病似乎由一个谱系组成,应该对患者进行类似的管理。我们证明了没有明确选择报告特征缺失的数据收集方法(例如大多数基于人类表型本体的方法)往往会低估基因相关特征。结论 ARID1B-ID 和 ARID1B-CSS 患者之间只有微小的差异。ARID1B 相关疾病似乎由一个谱系组成,应该对患者进行类似的管理。我们证明了没有明确选择报告特征缺失的数据收集方法(例如大多数基于人类表型本体的方法)往往会低估基因相关特征。
更新日期:2018-10-22
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