PDF(Pubmed)
Abstract：
UNASSIGNED: Primrose syndrome (PS; MIM #259050) is a rare autosomal dominant genetic condition characterized by macrocephaly with or without tall stature, hypotonia, moderate to severe intellectual disability (ID) with delay in expressive speech development, behavioral abnormalities, and a recognizable facial phenotype including deep set eyes, ptosis, narrow and frequently downslanting palpebral fissures, and depressed nasal bridge. PS is caused by a heterozygous pathogenic variant in ZBTB20 (MIM #606025) on chromosome 3q13. Among other characteristic findings are ocular abnormalities, hearing loss, calcification of the external ear cartilage, nonspecific brain magnetic resonance imaging findings, and cryptorchidism. Adults may exhibit joint contractures, distal muscle wasting, sparse body hair, cataract, and disturbed glucose metabolism as well. The majority of affected individuals have typically been adults until recently since the phenotype becomes more recognizable in time.
UNASSIGNED: In this study, we report on a 14-month-old girl who presented with neurodevelopmental findings, facial features, and hearing loss. The glucose metabolism was normal, and muscle atrophy, joint contractures, and external ear cartilage calcification were yet hitherto not evident. A novel de novo missense variant in ZBTB20 was identified with the aid of exome sequencing.
UNASSIGNED: PS is a rare clinical entity with various recognizable features, yet the phenotype may be indistinguishable from other neurodevelopmental disorders. Exome sequencing is a useful diagnostic tool especially in patients with no specific diagnosis despite detailed examinations and imaging studies.
UNASSIGNED: In this study, we report on a 14-month-old girl who presented with neurodevelopmental findings, facial features, and hearing loss. The glucose metabolism was normal, and muscle atrophy, joint contractures, and external ear cartilage calcification were yet hitherto not evident. A novel de novo missense variant in ZBTB20 was identified with the aid of exome sequencing.
UNASSIGNED: PS is a rare clinical entity with various recognizable features, yet the phenotype may be indistinguishable from other neurodevelopmental disorders. Exome sequencing is a useful diagnostic tool especially in patients with no specific diagnosis despite detailed examinations and imaging studies.
摘要：
■Primrosesyndrome(PS;MIM#259050)是一种罕见的常染色体显性遗传病，其特征是有或没有身材高大的大头畸形，低张力,中度至重度智力障碍（ID），表达性言语发育延迟，行为异常,和可识别的面部表型，包括深陷的眼睛，上睑下垂,狭窄且经常下倾斜的睑裂，和凹陷的鼻梁。PS是由染色体3q13上的ZBTB20(MIM#606025)中的杂合致病变体引起的。其他特征性发现包括眼部异常，听力损失,外耳软骨钙化，非特异性脑磁共振成像发现，和隐睾。成人可能表现出关节挛缩，远端肌肉萎缩，稀疏的体毛，白内障,葡萄糖代谢也受到干扰。大多数受影响的个体通常直到最近才是成年人，因为表型在时间上变得更容易识别。
■在这项研究中，我们报道了一个14个月大的女孩，她有神经发育的发现，面部特征,和听力损失。糖代谢正常,肌肉萎缩,关节挛缩,和外耳软骨钙化迄今尚未明显。借助外显子组测序鉴定了ZBTB20中的新的从头错义变体。
■PS是一种罕见的临床实体，具有各种可识别的特征，然而，该表型可能与其他神经发育障碍无法区分。外显子组测序是一种有用的诊断工具，特别是在尽管进行了详细检查和成像研究但没有特定诊断的患者中。
■在这项研究中，我们报道了一个14个月大的女孩，她有神经发育的发现，面部特征,和听力损失。糖代谢正常,肌肉萎缩,关节挛缩,和外耳软骨钙化迄今尚未明显。借助外显子组测序鉴定了ZBTB20中的新的从头错义变体。
■PS是一种罕见的临床实体，具有各种可识别的特征，然而，该表型可能与其他神经发育障碍无法区分。外显子组测序是一种有用的诊断工具，特别是在尽管进行了详细检查和成像研究但没有特定诊断的患者中。
