TY - JOUR
T1 - Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis
AU - Udupa, Prajna
AU - Ghosh, Debasish Kumar
AU - Kausthubham, Neethukrishna
AU - Shah, Hitesh
AU - Bartakke, Sandip
AU - Dalal, Ashwin
AU - Girisha, Katta M.
AU - Bhavani, Gandham Sri Lakshmi
N1 - Publisher Copyright:
© 2022, The Author(s).
PY - 2023/4
Y1 - 2023/4
N2 - Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder caused by impaired osteoclast activity. In this study, we describe a 4-year-old boy with increased bone density due to osteopetrosis, autosomal recessive 8. Using genome sequencing, we identified a large deletion in the 5′-untranslated region (UTR) of SNX10 (sorting nexin 10), where the regulatory region of this gene is located. This large deletion resulted in the absence of the SNX10 transcript and led to abnormal osteoclast activity. SNX10 is one of the nine genes known to cause ARO, shown to interact with V-ATPase (vacuolar type H(+)-ATPase), as it plays an important role in bone resorption. Our study highlights the importance of regulatory regions in the 5′-UTR of SNX10 for its expression while also demonstrating the importance of genome sequencing for detecting large deletion of the regulatory region of SNX10.
AB - Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder caused by impaired osteoclast activity. In this study, we describe a 4-year-old boy with increased bone density due to osteopetrosis, autosomal recessive 8. Using genome sequencing, we identified a large deletion in the 5′-untranslated region (UTR) of SNX10 (sorting nexin 10), where the regulatory region of this gene is located. This large deletion resulted in the absence of the SNX10 transcript and led to abnormal osteoclast activity. SNX10 is one of the nine genes known to cause ARO, shown to interact with V-ATPase (vacuolar type H(+)-ATPase), as it plays an important role in bone resorption. Our study highlights the importance of regulatory regions in the 5′-UTR of SNX10 for its expression while also demonstrating the importance of genome sequencing for detecting large deletion of the regulatory region of SNX10.
KW - Male
KW - Humans
KW - Child, Preschool
KW - Mutation
KW - Osteopetrosis/diagnostic imaging
KW - Base Sequence
KW - Osteoclasts/metabolism
KW - Adenosine Triphosphatases/genetics
KW - Sorting Nexins/genetics
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UR - https://www.mendeley.com/catalogue/b16ed5d2-9073-3b87-92f6-fc5cbb9fcdc4/
U2 - 10.1038/s10038-022-01104-2
DO - 10.1038/s10038-022-01104-2
M3 - Article
C2 - 36526684
AN - SCOPUS:85144131558
SN - 1434-5161
VL - 68
SP - 287
EP - 290
JO - Journal of Human Genetics
JF - Journal of Human Genetics
IS - 4
ER -