Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.
Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.
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DOI：
10.1177/0883073817750490
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发表时间：
2018-03
影响因子：
1.9
通讯作者：
Golla S
中科院分区：
文献类型：
--
作者：
Goodspeed K;Newsom C;Morris MA;Powell C;Evans P;Golla S
皮特-霍普金斯综合征(PTHS)是一种罕见的遗传性疾病，由参与胚胎神经元分化的TCF4分子变体引起。PTHS的特点是症状相、精神运动迟缓和智力残疾。其他相关特征包括早发性近视、癫痫、便秘和过度换气-呼吸暂停。许多人也符合自闭症谱系障碍的标准。在这里，我们介绍了一系列23例PTHS患者的分子确认的TCF4变异体，并描述了三个独特的个体。第一个带有一个小的缺失，但没有表现出典型的面部特征，也没有典型的发育迟缓模式。第二例表现出典型的面部特征，但与迄今报道的其他病例相比，获得了更高级的运动和语言技能。第三例表现出PTHS的典型特征，然而，从他患有体细胞嵌合体的未受影响的父亲那里遗传了涉及TCF4的大量染色体重复。据我们所知，这是迄今为止报道的第一例染色体重复病例。
Pitt-Hopkins Syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic spells. Many also meet criteria for autism spectrum disorder. Here we present a series of 23 PTHS patients with molecularly confirmed TCF4 variants and describe three unique individuals. The first carries a small deletion but does not exhibit the typical facial features nor the typical pattern of developmental delay. The second exhibits typical facial features, but has attained more advanced motor and verbal skills than other reported cases to date. The third displays typical features of PTHS, however inherited a large chromosomal duplication involving TCF4 from his unaffected father with somatic mosaicism. To our knowledge, this is the first chromosomal duplication case reported to date.
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影响因子：
3.7
作者：
Forrest MP;Waite AJ;Martin-Rendon E;Blake DJ
通讯作者：
Blake DJ
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Gregor A;Albrecht B;Bader I;Bijlsma EK;Ekici AB;Engels H;Hackmann K;Horn D;Hoyer J;Klapecki J;Kohlhase J;Maystadt I;Nagl S;Prott E;Tinschert S;Ullmann R;Wohlleber E;Woods G;Reis A;Rauch A;Zweier C
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Zweier C
影响因子：
3.7
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通讯作者：
Hennekam RC
影响因子：
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作者：
Brockschmidt, Antje;Filippi, Alida;Weber, Ruthild G.
通讯作者：
Weber, Ruthild G.
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1.9
作者：
Kousoulidou, Ludmila;Tanteles, George;Anastasiadou, Violetta
通讯作者：
Anastasiadou, Violetta