RAD51-Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL.

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Burak Altintas, Andrea Stacy, Katie Gettinger, David B Wilson, Marwan S Shinawi
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引用次数: 0

Abstract

Fanconi anemia (FA) is a multiorgan disease caused by pathogenic variants in genes involved in the FA/BRCA DNA repair pathway. We report a 10-year-old female who presented with multiple congenital anomalies consistent with VACTERL (Vertebral anomalies, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal/duodenal atresia, and Renal and Limb anomalies) and PHENOS (abnormal Pigmentation, small Head, small Eyes, central Nervous system anomalies, Otological anomalies, short Stature), and later exhibited global developmental delay. She tested positive for a de novo likely pathogenic variant in RAD51 and had inconclusive chromosomal breakage studies. This case provides evidence for a common association between RAD51-related FA and VACTERL and expands its genotypic and phenotypic spectra.

rad51相关的范可尼贫血:扩大表型谱并与VACTERL密切相关。
范可尼贫血(Fanconi anemia, FA)是一种由FA/BRCA DNA修复通路相关基因的致病变异引起的多器官疾病。我们报告了一位10岁的女性,她表现出与VACTERL(椎体异常、肛门闭锁、心脏异常、气管食管瘘、食管/十二指肠闭锁、肾脏和肢体异常)和PHENOS(异常色素沉着、小头、小眼睛、中枢神经系统异常、耳部异常、身材矮小)一致的多种先天性异常,后来表现出全面发育迟缓。她的RAD51新发可能致病变异检测呈阳性,染色体断裂研究尚无定论。该病例为rad51相关FA与VACTERL之间的共同关联提供了证据,并扩展了其基因型和表型谱。
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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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