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01-09-2014 | Scientific Letter

Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis

Authors: Sirisha Rani Siddaiahgari, Darshak Makadia, Nikit Shah, Radha Rama Devi, Lokesh Lingappa

Published in: Indian Journal of Pediatrics | Issue 9/2014

Excerpt

To the Editor: Infantile malignant osteopetrosis (ARO), an autosomal recessive disorder of osteoclast dysfunction, manifests with anemia, thrombocytopenia, hepatosplenomegaly, visual impairment, optic atrophy and deafness. Different genetic mutations described are TCIRG1 (encoding the a3 subunit of ruffled membrane), CLCN7, OSTM1, PLEKHM1 etc [1, 2]. We report novel mutation in an infant with malignant osteopetrosis on TCIRG1 gene. …

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Title: Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis
Authors: Sirisha Rani Siddaiahgari
Darshak Makadia
Nikit Shah
Radha Rama Devi
Lokesh Lingappa
Publication date: 01-09-2014
Publisher: Springer India
Published in: Indian Journal of Pediatrics / Issue 9/2014
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-013-1250-1

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Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis

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