Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome)

Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome)

Abstract Sperm-associated antigen 9 (SPAG9) is a member of cancer-testis antigen, having characteristics of a scaffold protein, which is involved in the c-Jun N-terminal kinase JNK signaling pathway, suggesting its key involvement in different physiological processes, such as survival, apoptosis, tu...

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Main Authors: Majid Alfadhel, Bashayr S. Alhubayshi, Muhammad Umair, Ahmed Alfaidi, Deemah Alwadaani, Essra Aloyouni, Safdar Abbas, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Ruaa S. Alharithy, Abdulaziz Alajlan, Abdulrahman Alswaid, Saad Almohrij, Sultan Al-Khenaizan
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2025-01-01
Series:Genetics and Molecular Biology
Subjects:
SPAG9
oculocutaneous albinism
intellectual disability
cataract
frameshift variant
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572025000100102&lng=en&tlng=en
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