CRKL Gene Deletion in Familial Zinner (OSVIRA) and OHVIRA Syndromes.

IF 6.2 2区 医学 Q1 PEDIATRICS Pediatrics Pub Date : 2024-12-27 DOI:10.1542/peds.2024-068135
Hannah L Rhodes,Lucy Bownass,Sarah F Smithson,Mark N Woodward
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Abstract

We present the first description of a family in which 2 siblings show alternative expression of CRKL gene deletion as the phenotypes of Zinner (OSVIRA, obstructed seminal vesicle and ipsilateral renal agenesis) and OHVIRA (obstructed hemivagina with an ipsilateral renal anomaly) syndromes. The male infant with Zinner syndrome and his sister aged 5 years with OHVIRA syndrome both have a paternally inherited 703-kb deletion at chromosome 22q11.21 that includes CRKL. This observation supports Acien's hypothesis that the upper vagina has an embryological dual origin and furthermore substantiates the theory that Zinner (OSVIRA) is the male equivalent of OHVIRA in females.
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家族性Zinner (OSVIRA)和OHVIRA综合征的CRKL基因缺失。
我们首次描述了一个家族,其中两个兄弟姐妹表现出CRKL基因缺失的替代表达,作为Zinner (OSVIRA,精囊阻塞和同侧肾发育不全)和OHVIRA(梗阻性半阴道伴同侧肾异常)综合征的表型。Zinner综合征男婴和他5岁的OHVIRA综合征妹妹在22q11.21染色体上都有703-kb的缺失,其中包括CRKL。这一观察结果支持了Acien的假设,即阴道上部具有胚胎学上的双重起源,并进一步证实了Zinner (OSVIRA)在男性中相当于女性中的OHVIRA的理论。
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来源期刊
Pediatrics
Pediatrics 医学-小儿科
CiteScore
12.80
自引率
5.00%
发文量
791
审稿时长
2-3 weeks
期刊介绍: The Pediatrics® journal is the official flagship journal of the American Academy of Pediatrics (AAP). It is widely cited in the field of pediatric medicine and is recognized as the leading journal in the field. The journal publishes original research and evidence-based articles, which provide authoritative information to help readers stay up-to-date with the latest developments in pediatric medicine. The content is peer-reviewed and undergoes rigorous evaluation to ensure its quality and reliability. Pediatrics also serves as a valuable resource for conducting new research studies and supporting education and training activities in the field of pediatrics. It aims to enhance the quality of pediatric outpatient and inpatient care by disseminating valuable knowledge and insights. As of 2023, Pediatrics has an impressive Journal Impact Factor (IF) Score of 8.0. The IF is a measure of a journal's influence and importance in the scientific community, with higher scores indicating a greater impact. This score reflects the significance and reach of the research published in Pediatrics, further establishing its prominence in the field of pediatric medicine.
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