Stark Z, Savarirayan R, Osteopetrosis (2009) Orphanet J Rare Dis 4:5
Article PubMed PubMed Central Google Scholar
Albers-Schonberg H (1904) Rontgenbilder einer seltenen knochenerkrankung. Münch Med Wochenschr 51:365
Karshner RG (1926) Osteopetrosis. Am J Roentgenol 16(5):405–419
Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH (2013) Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol 9(9):522–536
Article CAS PubMed Google Scholar
Bollerslev J, Mosekilde L (1993) Autosomal dominant osteopetrosis. Clin Orthop Relat Res 294:45–51
Bollerslev J, Henriksen K, Nielsen MF, Brixen K, Van Hul W (2013) Autosomal dominant osteopetrosis revisited: lessons from recent studies. Eur J Endocrinol 169(2):R39-57
Article CAS PubMed Google Scholar
Palagano E, Menale C, Sobacchi C, Villa A (2018) Genetics of osteopetrosis. Curr Osteoporos Rep 16(1):13–25
Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S et al (2019) Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A 179(12):2393–2419
Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ et al (2017) Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis Working Group. J Clin Endocrinol Metab 102(9):3111–3123
Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C (2009) Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor. Calcif Tissue Int 84(1):1–12
Article CAS PubMed Google Scholar
Roberts CML, Angus JE, Leach IH, McDermott EM, Walker DA, Ravenscroft JC (2010) A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). Eur J Pediatr 169(11):1403–1407
Arun AK, Senthamizhselvi A, Hemamalini S, Edison ES, Korula A, Fouzia NA et al (2018) Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin. J Clin Pathol 71(12):1046–1050
Article CAS PubMed Google Scholar
Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T et al (2000) Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet 9(13):2059–2063
Article CAS PubMed Google Scholar
Kent WJ (2002) BLAT—the BLAST-like alignment tool. Genome Res 12(4):656–664
CAS PubMed PubMed Central Google Scholar
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM et al (2002) The human genome browser at UCSC. Genome Res 12(6):996–1006
Article CAS PubMed PubMed Central Google Scholar
Kearse M, Moir R, Wilson A, Stones-Havas S, Cheung M, Sturrock S et al (2012) Geneious Basic: an integrated and extendable desktop software platform for the organization and analysis of sequence data. Bioinformatics 28(12):1647–1649
Article PubMed PubMed Central Google Scholar
Arunachalam AK, Maddali M, Aboobacker FN, Korula A, George B, Mathews V et al (2021) Primary immunodeficiencies in India: molecular diagnosis and the role of next-generation sequencing. J Clin Immunol 41(2):393–413
Article CAS PubMed Google Scholar
Smigielski EM, Sirotkin K, Ward M, Sherry ST (2000) dbSNP: a database of single nucleotide polymorphisms. Nucleic Acids Res 28(1):352–355
Article CAS PubMed PubMed Central Google Scholar
Jain A, Bhoyar RC, Pandhare K, Mishra A, Sharma D, Imran M et al (2021) IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomes. Nucleic Acids Res 49(D1):D1225–D1232
Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S et al (2016) ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 44(D1):D862–D868
Article CAS PubMed Google Scholar
Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L et al (2020) The human gene mutation database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Hum Genet 139(10):1197–1207
Article PubMed PubMed Central Google Scholar
Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A (2015) OMIM.org: online mendelian inheritance in man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Res 43(Database issue):D789–D798
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249
Article CAS PubMed PubMed Central Google Scholar
Ng PC, Henikoff S (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31(13):3812–3814
Article CAS PubMed PubMed Central Google Scholar
Reva B, Antipin Y, Sander C (2011) Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res 39(17):e118
Article CAS PubMed PubMed Central Google Scholar
Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G et al (2011) Integrative genomics viewer. Nat Biotechnol 29(1):24–26
Article CAS PubMed PubMed Central Google Scholar
Chunn LM, Nefcy DC, Scouten RW, Tarpey RP, Chauhan G, Lim MS et al (2020) Mastermind: a comprehensive genomic association search engine for empirical evidence curation and genetic variant interpretation. Front Genet 11:577152
Article CAS PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) 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 17(5):405–424
Article PubMed PubMed Central Google Scholar
Phadke SR, Fischer B, Gupta N, Ranganath P, Kabra M, Kornak U (2010) Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. Indian J Med Res 131:508–514
Smirnova AS, Morgun A, Shulzhenko N, Silva IDCG, Gerbase-DeLima M (2005) Identification of new alternative splice events in the TCIRG1 gene in different human tissues. Biochem Biophys Res Commun 330(3):943–949
Article CAS PubMed Google Scholar
Cao W, Wei W, Wu Q (2018) Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis. BMJ Open Ophthalmol 3(1):e000180
Article PubMed PubMed Central Google Scholar
Sallevelt SCEH, Stegmann APA, de Koning B, Velter C, Steyls A, van Esch M et al (2021) Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice. Genet Med 23(6):1125–1136
Article CAS PubMed PubMed Central Google Scholar
Pangrazio A, Caldana ME, Lo Iacono N, Iacono NL, Mantero S, Vezzoni P et al (2012) Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications. Osteoporos Int 23(11):2713–2718
Article CAS PubMed Google Scholar
Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M et al (2001) The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 10(17):1767–1773
Article CAS PubMed Google Scholar
Wada K, Harada D, Michigami T, Tachikawa K, Nakano Y, Kashiwagi H et al (2013) A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation. J Pediatr Endocrinol Metab 26(5–6):575–577
Chen X, Zhang K, Hock J, Wang C, Yu X (2016) Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C > T mutation in CLCN7. Bone Res 4(1):1–9
Ledemazel J, Plantaz D, Pagnier A, Girard P, Lasfargue M, Hullo E et al (2016) Malignant infantile osteopetrosis: case report of a 5-month-old boy. Arch Pediatr 23(4):389–393
Article CAS PubMed Google Scholar
Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM et al (2010) Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. Hum Mutat 31(1):E1071–E1080
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