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Review
. 2021 Jan 28;46(1):108-112.
doi: 10.11817/j.issn.1672-7347.2021.190322.

SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review

[Article in English, Chinese]
Ting Zhou  1 , Caixia Zeng  2 , Qiong Xi  2 , Zuocheng Yang  3
Affiliations
Review

SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review

[Article in English, Chinese]
Ting Zhou et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. .

Abstract
in English, Chinese

A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO) was admitted to Department of Pediatrics, Third Xiangya Hospital, Central South University. The patient had the symptom of anemia, hepatosplenomegaly and growth retardation. The X-ray examination suggested extensive increase of bone density throughout the body, which was clinically diagnosed as IMO. The homozygous mutation of SNX10 gene c.61C>T was found via gene sequencing. We reviewed the relevant literatures and found that anemia, visual and hearing impairment, hepatosplenomegaly are the main clinical symptoms of IMO, SNX10 gene mutation is a rare cause of IMO, and hematopoietic stem cell transplantation is an effective treatment.

中南大学湘雅三医院儿科收治1例SNX10基因突变致婴儿恶性石骨症(infantile malignant osteopetrosis，IMO)患儿。该患儿临床表现为贫血、肝脾肿大、生长发育迟缓，X线检查提示全身骨密度广泛增高，临床诊断为IMO。基因测序为SNX10基因c.61C>T纯合突变。通过对国内外相关文献进行复习，发现贫血、视听力障碍、肝脾肿大是IMO的主要临床症状，SNX10基因突变是导致IMO的罕见原因，造血干细胞移植是其有效的治疗手段。.

Keywords: SNX10; hematopoietic stem cell transplantation; infantile malignant osteopetrosis.

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Conflict of interest statement

作者声称无任何利益冲突。

Figures

图1
图1
SNX10基因c.61C>T突变家系图 Figure 1 SNX10 gene c.61C>T mutation family diagram The patient is indicated by black arrow.
图2
图2
患儿骨骼X线片 Figure 2 X-ray film of child’s skeleton A: An extensive increase in bone density in the sternum and bilateral ribs. B: The density of spinal medullary cavity increases significantly, and the thoracic and lumbar vertebrae shows sandwich changes. C: Cranial density increases.
图3
图3
SNX10基因测序图 Figure 3 SNX10 gene sequencing diagram A: Child with c.61C>T homozygous mutation; B: Childs’s father with c.61C>T heterozygous mutation; C: Childs’s mother with c.61C>T heterozygous mutation; D: Childs’s brother with c.61C>T heterozygous mutation.
See this image and copyright information in PMC

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