Prenatal diagnosis · 2026
NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Zhao Yilin, Zou Gang, Shi Mengmeng, Law Kwok Ming, Lau So Ling, Meng Meng, Ting Yuen Ha, Poon Chiu Yee Liona, Dong Zirui, Chau Matthew Hoi Kin, Leung Tak Yeung, Choy Kwong Wai, Zhang Xinwen, Cao Ye
Аннотация
OBJECTIVE: To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO-related X-linked intellectual developmental disorder.
METHOD: We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing. A systematic literature review was conducted to provide a comprehensive analysis of genotype-phenotype correlations.
RESULTS: Two novel cases were reported in this study: one with a de novo 61.7 kb deletion affecting both NONO and ITGB1BP2, and another with a de novo c.1093 C > T(p.Arg365Ter), a recurrent variant reported in the literature. A total of 23 cases with NONO defects and prenatal phenotypes were identified, encompassing 19 distinct variant types. Large deletions and splicing variants accounted for approximately 32% (6/19). Among all cases, 78% (18/23) exhibited typical or concurrent brain abnormalities, such as corpus callosum agenesis, cardiac defects including left ventricular noncompaction (LVNC), or short long bones in the second trimester. Notably, 4% (1/23) of cases were reported with isolated intrauterine growth restriction (IUGR), primarily identified in the third trimester.
CONCLUSION: Genome sequencing facilitates thorough identification of the genetic causes of NONO-related syndrome. The recurrent variant p.Arg365Ter has been reported to cause variable cardiac abnormalities in different patients, suggesting that other genetic or non-genetic factors may contribute to the cardiac manifestations in NONO-related syndromes.
METHOD: We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing. A systematic literature review was conducted to provide a comprehensive analysis of genotype-phenotype correlations.
RESULTS: Two novel cases were reported in this study: one with a de novo 61.7 kb deletion affecting both NONO and ITGB1BP2, and another with a de novo c.1093 C > T(p.Arg365Ter), a recurrent variant reported in the literature. A total of 23 cases with NONO defects and prenatal phenotypes were identified, encompassing 19 distinct variant types. Large deletions and splicing variants accounted for approximately 32% (6/19). Among all cases, 78% (18/23) exhibited typical or concurrent brain abnormalities, such as corpus callosum agenesis, cardiac defects including left ventricular noncompaction (LVNC), or short long bones in the second trimester. Notably, 4% (1/23) of cases were reported with isolated intrauterine growth restriction (IUGR), primarily identified in the third trimester.
CONCLUSION: Genome sequencing facilitates thorough identification of the genetic causes of NONO-related syndrome. The recurrent variant p.Arg365Ter has been reported to cause variable cardiac abnormalities in different patients, suggesting that other genetic or non-genetic factors may contribute to the cardiac manifestations in NONO-related syndromes.