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

引用次数: 0

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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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

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