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Article

An SNX10 mutation causes malignant osteopetrosis of infancy.

Journal of medical genetics - 1 Apr 2012

Aker Memet, Rouvinski Alex, Hashavia Saar, Ta-Shma Asaf, Shaag Avraham, Zenvirt Shamir, Israel Shoshana, Weintraub Michael, Taraboulos Albert, Bar-Shavit Zvi, Elpeleg Orly

Abstract excerpt

BACKGROUND: Osteopetrosis is a life-threatening, rare disorder typically resulting from osteoclast dysfunction and infrequently from failure to commitment to osteoclast lineage. Patients commonly present in infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, and bone...

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Source

Identifiers

PMID: 22499339
DOI: 10.1136/jmedgenet-2011-100520

Genes

SNX10
TCIRG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22499339-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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An SNX10 mutation causes malignant osteopetrosis of infancy.PMID 22499339Read ↗

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclastsSemantic proximity Read ↗

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.Semantic proximity Read ↗

Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From OsteopetrosisSemantic proximity Read ↗

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.Semantic proximity Read ↗

A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.Semantic proximity Read ↗

Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.Semantic proximity Read ↗

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.Semantic proximity Read ↗

Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene.Semantic proximity Read ↗

Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.Semantic proximity Read ↗

Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption.Semantic proximity Read ↗

Massive osteopetrosis caused by non-functional osteoclasts in R51Q SNX10 mutant mice.Semantic proximity Read ↗

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