SNX10 Gene Mutation in Infantile Malignant Osteopetrosis: A Case Report and Literature Review

Overview

Journal Zhong Nan Da Xue Xue Bao Yi Xue Ban

Specialty General Medicine

Date 2021 Mar 8

PMID 33678645

Authors

Ting Zhou

Caixia Zeng

Qiong Xi

Zuocheng Yang

Affiliations

Soon will be listed here.

Abstract

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.

References

Ye L, Morse L, Battaglino R . Snx10: a newly identified locus associated with human osteopetrosis. IBMS Bonekey. 2014; 2013(10). PMC: 4237201. DOI: 10.1038/bonekey.2013.155. View

Amirfiroozy A, Hamidieh A, Golchehre Z, Rezamand A, Yahyaei M, Beiranvandi F . A Novel Mutation in Gene Causes Malignant Infantile Osteopetrosis. Avicenna J Med Biotechnol. 2017; 9(4):205-208. PMC: 5650739. View

Yuan P, Zeng Y, Zheng L, Deng J, Wang J, Xu Y . [Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015; 32(3):307-11. DOI: 10.3760/cma.j.issn.1003-9406.2015.03.001. View

Stattin E, Henning P, Klar J, McDermott E, Stecksen-Blicks C, Sandstrom P . SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. Sci Rep. 2017; 7(1):3012. PMC: 5462793. DOI: 10.1038/s41598-017-02533-2. View

Cao W, Wei W, Yu G, Wu Q, Qin M . Comparison of Optic Canal Diameter in Children With Malignant Infantile Osteopetrosis and Normal Children and the Effects of Hematopoietic Stem Cell Transplantation on the Optic Canal Diameter. J Pediatr Ophthalmol Strabismus. 2018; 56(1):35-42. DOI: 10.3928/01913913-20180921-01. View

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5):405-24. PMC: 4544753. DOI: 10.1038/gim.2015.30. View

Del Fattore A, Cappariello A, Teti A . Genetics, pathogenesis and complications of osteopetrosis. Bone. 2007; 42(1):19-29. DOI: 10.1016/j.bone.2007.08.029. View

Palagano E, Menale C, Sobacchi C, Villa A . Genetics of Osteopetrosis. Curr Osteoporos Rep. 2018; 16(1):13-25. DOI: 10.1007/s11914-018-0415-2. View

Cao W, Yu G, Qin M, Wu Q, Fan Y, Cui Y . [Visual function of seven children with malignant osteopetrosis after hematopoietic stem cell transplantation]. Zhonghua Yan Ke Za Zhi. 2013; 49(6):541-6. View

10.

Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S . An SNX10 mutation causes malignant osteopetrosis of infancy. J Med Genet. 2012; 49(4):221-6. DOI: 10.1136/jmedgenet-2011-100520. View

11.

Driessen G, Gerritsen E, Fischer A, Fasth A, Hop W, Veys P . Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplant. 2003; 32(7):657-63. DOI: 10.1038/sj.bmt.1704194. View

12.

Xu M, Stattin E, Murphy M, Barry F . Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212+1G>T mutation in SNX10 gene. Stem Cell Res. 2017; 24:51-54. DOI: 10.1016/j.scr.2017.07.024. View

13.

Megarbane A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S . Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. Eur J Med Genet. 2012; 56(1):32-5. DOI: 10.1016/j.ejmg.2012.10.010. View

14.

Zhu G, Qin M, Wang B, Zhou X, Yang J, Jia C . [Allogeneic stem cell transplantation for 8 patients with malignant infantile osteopetrosis in China]. Zhonghua Er Ke Za Zhi. 2013; 50(11):807-12. View

15.

Stepensky P, Grisariu S, Avni B, Zaidman I, Shadur B, Elpeleg O . Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years. Blood Adv. 2019; 3(6):862-868. PMC: 6436016. DOI: 10.1182/bloodadvances.2018025890. View