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Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
Published on: December 18, 2019
CRKL Gene Deletion in Familial Zinner (OSVIRA) and OHVIRA Syndromes
Hannah L Rhodes1, Lucy Bownass2, Sarah F Smithson2
1Department of Paediatric Surgery & Urology, Noah's Ark Children's Hospital for Wales, Heath Park, Cardiff, United Kingdom.
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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