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Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene

Lookup NU author(s): Professor Mary Slatter, Dr Mario Abinun

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Abstract

© 2017 Osteopetrosis (OPT) is a rare skeletal disorder with phenotypic and genotypic heterogeneity: a variety of clinical features besides the bony defect may be present, and at least ten different genes are known to be involved in the disease pathogenesis. In the framework of this heterogeneity, we report the clinical description of a neonate, first child of consanguineous parents, who had osteoclast-rich osteopetrosis and bone marrow failure in early life, but no other usual classical features of infantile malignant OPT, such as visual or hearing impairments. Because of the severe presentation at birth, the patient received Hematopoietic Stem Cell Transplantation (HSCT) at 2 months of age with successful outcome. Post-HSCT genetic investigation by means of exome sequencing identified a novel homozygous mutation in the Fermitin Family Member 3 (FERMT3) gene, which was predicted to disrupt the functionality of its protein product kindlin 3. Our report provides information relevant to physicians for recognizing patients with one of the rarest forms of infantile malignant OPT, and clearly demonstrates that HSCT cures kindlin 3 deficiency with severe phenotype.

Publication metadata

Author(s): Palagano E, Slatter MA, Uva P, Menale C, Villa A, Abinun M, Sobacchi C

Publication type: Article

Publication status: Published

Journal: Bone

Year: 2017

Volume: 97

Pages: 126-129

Print publication date: 01/04/2017

Online publication date: 14/01/2017

Acceptance date: 13/01/2017

ISSN (print): 8756-3282

Publisher: Elsevier

URL: https://doi.org/10.1016/j.bone.2017.01.012

DOI: 10.1016/j.bone.2017.01.012

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