Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
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DOI：
10.1016/j.gim.2022.09.016
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发表时间：
2023-01
影响因子：
8.8
通讯作者：
Maroofian, Reza
中科院分区：
文献类型：
--
作者：
Cali, Elisa;Suri, Mohnish;Scala, Marcello;Ferla, Matteo P.;Alavi, Shahryar;Faqeih, Eissa Ali;Bijlsma, Emilia K.;Wigby, Kristen M.;Baralle, Diana;Mehrjardi, Mohammad Y., V;Schwab, Jennifer;Platzer, Konrad;Steindl, Katharina;Hashem, Mais;Jones, Marilyn;Niyazov, Dmitriy M.;Jacober, Jennifer;Littlejohn, Rebecca Okashah;Weis, Denisa;Zadeh, Neda;Rodan, Lance;Goldenberg, Alice;Lecoquierre, Francois;Dutra-Clarke, Marina;Horvath, Gabriella;Young, Dana;Orenstein, Naama;Bawazeer, Shahad;Vulto-van Silfhout, Anneke T.;Herenger, Yvan;Dehghani, Mohammadreza;Seyedhassani, Seyed Mohammad;Bahreini, Amir;Nasab, Mahya E.;Ercan-Sencicek, A. Gulhan;Firoozfar, Zahra;Movahedinia, Mojtaba;Efthymiou, Stephanie;Striano, Pasquale;Karimiani, Ehsan Ghayoor;Salpietro, Vincenzo;Taylor, Jenny C.;Redman, Melody;Stegmann, Alexander P. A.;Laner, Andreas;Abdel-Salam, Ghada;Li, Megan;Bengala, Mario;Muller, Amelie Johanna;Digilio, Maria C.;Rauch, Anita;Gunel, Murat;Titheradge, Hannah;Schweitzer, Daniela N.;Kraus, Alison;Valenzuela, Irene;McLean, Scott D.;Phornphutkul, Chanika;Salih, Mustafa;Begtrup, Amber;Schnur, Rhonda E.;Torti, Erin;Haack, Tobias B.;Prada, Carlos E.;Alkuraya, Fowzan S.;Houlden, Henry;Maroofian, Reza
关键词：
蛋白质精氨酸甲基转移酶7（PRMT 7）是催化多种蛋白质底物上的精氨酸残基甲基化的酶家族的成员。双等位基因致病性PRMT 7变体先前已与以身材矮小、短指（趾）畸形、智力发育障碍和癫痫发作为特征的综合征性神经发育障碍相关。据我们所知，没有全面的研究描述了这种综合征的详细临床特征。因此，我们的目标是描绘PRMT 7相关疾病的表型谱。我们收集了来自39个不同家族的51名受影响个体的队列，收集了36名新描述的受影响个体的临床信息，并回顾了文献中15名个体的数据。PRMT 7相关综合征的主要临床特征是身材矮小、轻度至重度发育迟缓/智力残疾、肌张力减退、短指（趾）畸形和明显的面部形态，包括双额叶变窄、眶上嵴突出、眉毛稀疏、鼻尖丰满/宽阔的短鼻、上唇薄、下唇丰满和外翻以及下颌突出或呈方形。其他可变的发现包括癫痫发作、肥胖、非特异性磁共振成像异常、眼睛异常（即，斜视或眼球震颤）和听力损失。这项研究进一步描绘和扩展了PRMT 7相关综合征的分子，表型谱和自然史，其特征在于具有骨骼，生长和内分泌异常的神经发育障碍。
Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome. Thus, we aim to delineate the phenotypic spectrum of PRMT7-related disorder. We assembled a cohort of 51 affected individuals from 39 different families, gathering clinical information from 36 newly described affected individuals and reviewing data of 15 individuals from the literature. The main clinical characteristics of the PRMT7-related syndrome are short stature, mild to severe developmental delay/intellectual disability, hypotonia, brachydactyly, and distinct facial morphology, including bifrontal narrowing, prominent supraorbital ridges, sparse eyebrows, short nose with full/broad nasal tip, thin upper lip, full and everted lower lip, and a prominent or squared-off jaw. Additional variable findings include seizures, obesity, nonspecific magnetic resonance imaging abnormalities, eye abnormalities (i.e., strabismus or nystagmus), and hearing loss. This study further delineates and expands the molecular, phenotypic spectrum and natural history of PRMT7-related syndrome characterized by a neurodevelopmental disorder with skeletal, growth, and endocrine abnormalities.
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PRMT7：干细胞和发育中的关键精氨酸甲基转移酶。
影响因子：
4.3
作者：
Wang B;Zhang M;Liu Z;Mu Y;Li K
通讯作者：
Li K
影响因子：
7.4
作者：
Ma T;Li L;Chen R;Yang L;Sun H;Du S;Xu X;Cao Z;Zhang X;Zhang L;Shi X;Liu JY
通讯作者：
Liu JY
影响因子：
3.9
作者：
Sobreira N;Schiettecatte F;Valle D;Hamosh A
通讯作者：
Hamosh A
影响因子：
1.9
作者：
Kehinde, Tawakalitu Abosede;Bhatia, Alisha;Osundiji, Mayowa Azeez
通讯作者：
Osundiji, Mayowa Azeez
影响因子：
3.5
作者：
Kernohan, K. D.;McBride, A.;Chitayat, D.
通讯作者：
Chitayat, D.