ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
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DOI：
10.1038/jhg.2017.24
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发表时间：
2017-08
影响因子：
3.5
通讯作者：
Matsumoto N
中科院分区：
文献类型：
--
作者：
Miyatake S;Okamoto N;Stark Z;Nabetani M;Tsurusaki Y;Nakashima M;Miyake N;Mizuguchi T;Ohtake A;Saitsu H;Matsumoto N
KBG综合征（KBG syndrome，KBGS）是一种常染色体显性遗传的多发性先天性异常-智力障碍综合征，以发育迟缓伴神经系统受累、上中切牙巨齿、特征性面部畸形和骨骼异常为特征。ANKRD 11的变异导致KBGS。我们展示了来自四个家庭的五名个体，通过全外显子组测序鉴定出ANKRD 11变体。五人中有四人受到临床影响，他们的诊断各不相同。一个是典型的KBGS，两个是Coffin-Siris综合征样（CSS），一个是智力残疾伴婴儿痉挛。一个人表现出极其温和的表型。所有人都符合KBGS的诊断标准。KBGS和CSS之间的表型特征在一定程度上重叠，特征性的牙齿和第五指/趾发现可以指示鉴别诊断。这些发现表明，ANKRD 11变异患者具有广泛的智力残疾，包括临床正常个体。这是第一份报告强调KBGS和CSS之间的临床重叠，并支持最近提出的临床概念，其中转录机制被破坏。
KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin–Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted.
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影响因子：
4
作者：
Ansari M;Poke G;Ferry Q;Williamson K;Aldridge R;Meynert AM;Bengani H;Chan CY;Kayserili H;Avci S;Hennekam RC;Lampe AK;Redeker E;Homfray T;Ross A;Falkenberg Smeland M;Mansour S;Parker MJ;Cook JA;Splitt M;Fisher RB;Fryer A;Magee AC;Wilkie A;Barnicoat A;Brady AF;Cooper NS;Mercer C;Deshpande C;Bennett CP;Pilz DT;Ruddy D;Cilliers D;Johnson DS;Josifova D;Rosser E;Thompson EM;Wakeling E;Kinning E;Stewart F;Flinter F;Girisha KM;Cox H;Firth HV;Kingston H;Wee JS;Hurst JA;Clayton-Smith J;Tolmie J;Vogt J;Tatton-Brown K;Chandler K;Prescott K;Wilson L;Behnam M;McEntagart M;Davidson R;Lynch SA;Sisodiya S;Mehta SG;McKee SA;Mohammed S;Holden S;Park SM;Holder SE;Harrison V;McConnell V;Lam WK;Green AJ;Donnai D;Bitner-Glindzicz M;Donnelly DE;Nellåker C;Taylor MS;FitzPatrick DR
通讯作者：
FitzPatrick DR
DOI：
10.1001/archpedi.1970.02100050435009
发表时间：
1970-01-01
影响因子：
--
作者：
COFFIN, GS;SIRIS, E
通讯作者：
SIRIS, E
影响因子：
30.8
作者：
Santen, Gijs W. E.;Aten, Emmelien;Kriek, Marjolein
通讯作者：
Kriek, Marjolein
影响因子：
9.8
作者：
Sirmaci, Asli;Spiliopoulos, Michail;Tekin, Mustafa
通讯作者：
Tekin, Mustafa
影响因子：
3.5
作者：
Wieczorek, Dagmar;Boegershausen, Nina;Wollnik, Bernd
通讯作者：
Wollnik, Bernd