Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/57326
Title: Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease
Authors: Bas, H.
Durmaz, C.D.
Tombak, M.C.
Cetin, G.O.
Karaer, K.
Keywords: CKAP2L
Filippi syndrome
kidney abnormalities
renal agenesis
skin pigmentation abnormalities
Publisher: John Wiley and Sons Inc
Abstract: Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, and selective limb abnormalities. Although the syndrome was described approximately four decades ago, only a few families with molecularly confirmed diagnoses have been reported. In this article, we present three new patients of Filippi syndrome with unusual clinical and genetic aspects. These patients exhibited novel clinical features that have not previously been associated with Filippi syndrome, including renal hypoplasia/aplasia, renal cysts, renal cortical thinning, hypomelanotic, and hypermelanotic macules. All three patients had homozygous frameshift variants of the CKAP2L gene, specifically NM_152515.3: c.554_555del, c.981_982del, and c.1463_1467del, with the second being a novel variant. Given the limited number of reported Filippi syndrome patients to date and the ongoing discovery of new clinical aspects of the disease, exploring its potential connection with kidney and skin pigmentation abnormalities could be valuable for future research. © 2024 Wiley Periodicals LLC.
URI: https://doi.org/10.1002/ajmg.a.63654
https://hdl.handle.net/11499/57326
ISSN: 1552-4825
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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