2022年11月10日 · MYRF-related cardiac urogenital syndrome (MYRF-CUGS) is primarily characterized by anomalies of the internal and external genitalia, congenital heart defects, and eye anomalies. 46,XY individuals can have a range of anomalies of the genitalia, from isolated unilateral cryptorchidism to ambiguous genitalia to typical-appearing female genitalia ...

2022年11月10日 · Clinical characteristics: MYRF-related cardiac urogenital syndrome (MYRF-CUGS) is primarily characterized by anomalies of the internal and external genitalia, congenital heart defects, and eye anomalies. 46,XY individuals can have a range of anomalies of the genitalia, from isolated unilateral cryptorchidism to ambiguous genitalia to typical ...

心脏-泌尿生殖综合征 (cardiac-urogenital syndrome，CUGS) (OMIM #618280)是由 MYRF 基因 (OMIM*608329)的杂合变异所致，主要的临床表现包括心血管畸形、泌尿生殖系统畸形和先天性膈疝。 该病较为罕见，目前仅报道了22例 MYRF 变异所致的CUGS患者，其基因变异与临床表型的对应关系尚不明确。 本研究应用低深度全基因组拷贝数变异测序 (copy number variation sequencing，CNV-seq)、家系全外显子组测序 (trio-whole exome sequencing，trio-WES) …

2024年11月14日 · MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses ...

心脏-泌尿生殖综合征，也称为cugs，与myrf相关的心脏-泌尿生殖综合征和pagod综合征有关。 与心脏-泌尿生殖综合征有关的重要基因是MYRF（髓鞘调节因子）。

2025年1月9日 · Cardiac-Urogenital Syndrome (CUGS) is a recently identified genetic disease characterized by urogenital, diaphragmatic, ophthalmic, and cardiac abnormalities caused by heterozygous pathogenic variants in the Myelin Regulatory Factor (MYRF) gene.

收集胎儿的临床资料，应用低深度全基因组测序 (CNV-seq)和家系全外显子组测序 (trio-WES)技术对胎儿及其父母进行遗传学分析，对候选变异进行Sanger测序家系验证。 结果:胎儿超声心动图提示主动脉弓发育不良。 trio-WES检测发现胎儿携带 MYRF基因c.1792-2A>C剪接变异，其父母均为野生型；Sanger测序验证该变异为新发变异。 根据美国医学遗传与基因组学学会 (ACMG)相关指南，评估为可能致病性变异。 CNV-seq检测未发现非整倍体或与胎儿表型相关的致病性拷贝数 …

MYRF-related cardiac urogenital syndrome (MYRF-CUGS) is characterized by anomalies of the internal and external genitalia, congenital heart defects, and eye anomalies. 46,XY individuals may have genital anomalies ranging from cryptorchidism to ambiguous genitalia. 46,XX individuals may have atypical internal genitalia.

This suggests that MYRF-CUGS may be an underrecognized cause of birth defects and should be considered in the differential diagnosis when multisystemic involvement is seen prenatally. Increased identification of MYRF variants may be due to the increased availability of prenatal sequencing. Importantly, 1 fetus was found to harbor an intronic ...

2025年1月9日 · Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary abnormality with a high degree of morbidity and mortality not previously associated with MYRF mutations or CUGS [5,6,7]. We here describe the first known cases of MYRF-CUGS with associated ALCAPA in three unrelated singleton neonates.