PDF(Pubmed)
Abstract：
UNASSIGNED: PACS1-related neurodevelopmental disorder (PACS1-related NDD) is caused by pathogenic variants in the PACS1 gene and is characterized by a distinctive facial appearance, intellectual disability, speech delay, seizures, feeding difficulties, cryptorchidism, hernias, and structural anomalies of the brain, heart, eye, and kidney. There is a marked facial resemblance and a common multisystem affectation with patients carrying pathogenic variants in the WDR37 and PACS2 genes, although they vary in terms of severity and eye involvement.
UNASSIGNED: Here, we describe 4 individuals with PACS1-related NDD from Mexico, all of them carrying a de novo PACS1 variant c.607C>T; p.(Arg203Trp) identified by exome sequencing. In addition to eye colobomata, this report identified corneal leukoma, cataracts, and tortuosity of retinal vessels as ophthalmic manifestations not previously reported in patients with PACS1-related NDD.
UNASSIGNED: We reviewed the ocular phenotypes reported in 74 individuals with PACS1-related NDD and the overlaps with WDR37- and PACS2-related syndromes. We found that the 3 syndromes have in common the presence of colobomata, ptosis, nystagmus, strabismus, and refractive errors, whereas microphthalmia, microcornea, and Peters anomaly are found only among individuals with PACS1-related NDD and WDR37 syndrome, being more severe in the latter. This supports the previous statement that the so-called WDR37-PACS1-PACS2 axis might have an important role in ocular development and also that the specific ocular findings could be useful in the clinical differentiation between these related syndromes.
UNASSIGNED: Here, we describe 4 individuals with PACS1-related NDD from Mexico, all of them carrying a de novo PACS1 variant c.607C>T; p.(Arg203Trp) identified by exome sequencing. In addition to eye colobomata, this report identified corneal leukoma, cataracts, and tortuosity of retinal vessels as ophthalmic manifestations not previously reported in patients with PACS1-related NDD.
UNASSIGNED: We reviewed the ocular phenotypes reported in 74 individuals with PACS1-related NDD and the overlaps with WDR37- and PACS2-related syndromes. We found that the 3 syndromes have in common the presence of colobomata, ptosis, nystagmus, strabismus, and refractive errors, whereas microphthalmia, microcornea, and Peters anomaly are found only among individuals with PACS1-related NDD and WDR37 syndrome, being more severe in the latter. This supports the previous statement that the so-called WDR37-PACS1-PACS2 axis might have an important role in ocular development and also that the specific ocular findings could be useful in the clinical differentiation between these related syndromes.
摘要：
■PACS1相关的神经发育障碍（PACS1相关的NDD）是由PACS1基因的致病变异引起的，其特征是独特的面部外观，智力残疾,说话延迟,癫痫发作,喂养困难，隐睾,疝气,大脑的结构异常，心,眼睛,还有肾.在WDR37和PACS2基因中携带致病变异的患者有明显的面部相似性和常见的多系统情感。尽管它们在严重程度和眼部受累方面有所不同。
■这里，我们描述了4名来自墨西哥的PACS1相关NDD患者，它们全部携带通过外显子组测序鉴定的从头PACS1变体c.607C>T;p.(Arg203Trp)。除了眼睛结瘤，这份报告确定了角膜白瘤，白内障,与PACS1相关的NDD患者以前没有报道过的视网膜血管弯曲作为眼科表现。
■我们回顾了74例PACS1相关NDD患者的眼部表型，以及与WDR37和PACS2相关综合征的重叠。我们发现这3种综合征都有共同的结肠瘤，上睑下垂,眼球震颤,斜视,和屈光不正，而小眼症，微角膜,仅在患有PACS1相关NDD和WDR37综合征的个体中发现Peters异常，后者更严重。这支持先前的陈述，即所谓的WDR37-PACS1-PACS2轴可能在眼部发育中起重要作用，并且特定的眼部发现可能有助于这些相关综合征之间的临床区分。
■这里，我们描述了4名来自墨西哥的PACS1相关NDD患者，它们全部携带通过外显子组测序鉴定的从头PACS1变体c.607C>T;p.(Arg203Trp)。除了眼睛结瘤，这份报告确定了角膜白瘤，白内障,与PACS1相关的NDD患者以前没有报道过的视网膜血管弯曲作为眼科表现。
■我们回顾了74例PACS1相关NDD患者的眼部表型，以及与WDR37和PACS2相关综合征的重叠。我们发现这3种综合征都有共同的结肠瘤，上睑下垂,眼球震颤,斜视,和屈光不正，而小眼症，微角膜,仅在患有PACS1相关NDD和WDR37综合征的个体中发现Peters异常，后者更严重。这支持先前的陈述，即所谓的WDR37-PACS1-PACS2轴可能在眼部发育中起重要作用，并且特定的眼部发现可能有助于这些相关综合征之间的临床区分。
