Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis.
Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis.
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DOI：
10.3390/jcm9113556
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发表时间：
2020-11-04
影响因子：
3.9
通讯作者：
Diniz-Freitas M
中科院分区：
文献类型：
--
作者：
Limeres J;Serrano C;De Nova JM;Silvestre-Rangil J;Machuca G;Maura I;Cruz Ruiz-Villandiego J;Diz P;Blanco-Lago R;Nevado J;Diniz-Freitas M
背景：Wolf-Hirschhorn综合征(WHS)是由4号染色体短臂末端缺失引起的一种罕见疾病。本研究的目的是报道WHS最具代表性的口腔表现，并将其与疾病的其他临床特征联系起来，并建立可能的表型-基因相关性。方法：这项研究是在2018-2019年在西班牙各地分布的6个参考中心进行的。研究组包括31名接受标准化口腔检查的WHS患者。由于行为原因，只对其中11名6岁或以上的儿童进行了成像研究。所有受试者之前都接受了特定的WHS医学检查，在此期间记录了解剖、功能、癫痫相关和遗传变量。结果：最常见的口腔表现为迟发性牙萌出(74.1%)、磨牙症(64.5%)、牙齿发育不全(63.6%)、小颌畸形(60.0%)、缺牙(45.5%)和口角下倾(32.3%)。我们发现精神运动延迟与牙齿缺失之间有很强的相关性(p=0.008；Cramér‘s V系数为0.75)。缺失的大小与缺牙的存在有统计学意义的相关性(p=0.009；点双列相关系数为0.75)。结论：WHS中常见的某些口腔表现可构成该综合征表型变异的一部分。WHS的一些特征，如精神运动延迟和癫痫，与口腔表现有关，如牙齿稀少和磨牙症。虽然目前尚不清楚大多数的基因-表型相关性，但其中大多数似乎与较大的缺失有关，这表明一些口腔-面部候选基因可能在关键的WHS区域之外，表明WHS是一种毗连的基因综合征。
Background: Wolf-Hirschhorn syndrome (WHS) is a rare disease caused by deletion in the distal moiety of the short arm of chromosome 4. The objectives of this study were to report the most representative oral findings of WHS, relate them with other clinical characteristics of the disease, and establish possible phenotype-genotype correlation. Methods: The study was conducted at 6 reference centers distributed throughout Spain during 2018–2019. The study group consisted of 31 patients with WHS who underwent a standardized oral examination. Due to behavioral reasons, imaging studies were performed on only 11 of the children 6 years of age or older. All participants had previously undergone a specific medical examination for WHS, during which anatomical, functional, epilepsy-related, and genetic variables were recorded. Results: The most prevalent oral manifestations were delayed tooth eruption (74.1%), bruxism (64.5%), dental agenesis (63.6%), micrognathia (60.0%), oligodontia (45.5%), and downturned corners of the mouth (32.3%). We detected strong correlation between psychomotor delay and oligodontia (p = 0.008; Cramér’s V coefficient, 0.75). The size of the deletion was correlated in a statistically significant manner with the presence of oligodontia (p = 0.009; point-biserial correlation coefficient, 0.75). Conclusion: Certain oral manifestations prevalent in WHS can form part of the syndrome’s phenotypic variability. A number of the characteristics of WHS, such as psychomotor delay and epilepsy, are correlated with oral findings such as oligodontia and bruxism. Although most genotype-phenotype correlations are currently unknown, most of them seem to be associated with larger deletions, suggesting that some oral-facial candidate genes might be outside the critical WHS region, indicating that WHS is a contiguous gene syndrome.
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DOI：
10.1016/j.ijporl.2019.109842
发表时间：
2020-04-01
影响因子：
1.5
作者：
Karempelis, Peter;Hagen, Mitchell;Roby, Brianne Barnett
通讯作者：
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影响因子：
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影响因子：
3.5
作者：
JOHNSON, VP;MULDER, RD;HOSEN, R
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HOSEN, R
DOI：
10.1002/ajmg.c.31449
发表时间：
2015-09-01
影响因子：
3.1
作者：
Battaglia, Agatino;Carey, John C.;South, Sarah T.
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South, Sarah T.
影响因子：
1.2
作者：
Blanco-Lago, Raquel;Malaga, Ignacio;Garcia-Ron, Adrian
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Garcia-Ron, Adrian