title: Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
abstract: ​Multicentric osteolysis nodulosis and arthropathy (MONA) is an infrequently described autosomal recessive skeletal dysplasia characterized by progressive osteolysis and arthropathy. Inactivating mutations in MMP2, encoding matrix metalloproteinase-2, are known to cause this disorder. Fifteen families with mutations in MMP2 have been reported in literature. In this study we screened thirteen individuals from eleven families for MMP2 mutations and identified eight mutations (five novel and three known variants). We characterize the clinical, radiographic and molecular findings in all individuals with molecularly proven MONA from the present cohort and previous reports, and provide a comprehensive review of the MMP2 related disorders.
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Gandham SriLakshmi
authors.initials: GS
authors.lastname: Bhavani
authors.affiliation: Department of Orthopedics, Pediatric Orthopedics services, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Hitesh
authors.initials: H
authors.lastname: Shah
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Shukla
authors.affiliation: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.affiliation: Department of Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamilnadu, India.
authors.forename: Kalpana
authors.initials: K
authors.lastname: Gowrishankar
authors.affiliation: Manipal Hospital, Bangalore, India.
authors.forename: Anand P
authors.initials: AP
authors.lastname: Rao
authors.affiliation: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Meenal
authors.initials: M
authors.lastname: Agarwal
authors.affiliation: Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.|Division of Diagnostics, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Prajnya
authors.initials: P
authors.lastname: Ranganath
authors.affiliation: Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India.
authors.forename: Alka V
authors.initials: AV
authors.lastname: Ekbote
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
authors.affiliation: Department of Community Medicine, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
authors.forename: Asha
authors.initials: A
authors.lastname: Kamath
authors.affiliation: Division of Diagnostics, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Ashwin
authors.initials: A
authors.lastname: Dalal
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Katta Mohan
authors.initials: KM
authors.lastname: Girisha
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010014:Osteolysis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D017386:Sequence Homology, Amino Acid
chemical_list: C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2
keywords: MMP2; Torg-Winchester syndrome; multicentric osteolysis nodulosis and arthropathy