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

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...

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Bibliographic Details
Published in:Pediatrics (Evanston) 2025-01, Vol.155 (1)
Main Authors: Rhodes, Hannah L, Bownass, Lucy, Smithson, Sarah F, Woodward, Mark N
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adaptor Proteins, Signal Transducing - genetics
Child, Preschool
Chromosomes, Human, Pair 22 - genetics
Female
Gene Deletion
Humans
Kidney - abnormalities
Male
Nuclear Proteins - genetics
Syndrome
Vagina - abnormalities
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Summary: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.
ISSN:0031-4005
1098-4275
1098-4275
DOI:10.1542/peds.2024-068135