A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome

Neerja Gupta; Soumalya Chakraborty; Madhumita Roy Chowdhury; Ratna Dua Puri; Manisha Jana; Indu Kumari; Sameer Bhatia; Madhulika Kabra

doi:10.1016/j.ejmg.2023.104822

A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome

Eur J Med Genet. 2023 Sep;66(9):104822. doi: 10.1016/j.ejmg.2023.104822. Epub 2023 Aug 17.

Authors

Neerja Gupta¹, Soumalya Chakraborty², Madhumita Roy Chowdhury³, Ratna Dua Puri⁴, Manisha Jana⁵, Indu Kumari⁶, Sameer Bhatia⁷, Madhulika Kabra⁸

Affiliations

¹ Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India. Electronic address: [email protected].
² Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India. Electronic address: [email protected].
³ Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India. Electronic address: [email protected].
⁴ Institute of Genomics, Sir Ganga Ram Hospital, New Delhi, India. Electronic address: [email protected].
⁵ Department of Radiodiagnosis & Interventional Radiology, AIIMS, New Delhi, India. Electronic address: [email protected].
⁶ Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India. Electronic address: [email protected].
⁷ Institute of Genomics, Sir Ganga Ram Hospital, New Delhi, India. Electronic address: [email protected].
⁸ Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India. Electronic address: [email protected].

PMID: 37595943
DOI: 10.1016/j.ejmg.2023.104822

Abstract

Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant skeletal dysplasia characterised by swelling and restriction of movement in the wrist and ankle joints, as well as osteolysis of the carpal and tarsal bones, that can be misdiagnosed as juvenile idiopathic arthritis. We describe five Indian families with heterozygous nonrecurrent missense pathogenic variants in exon 1 of MAF bZIP transcription factor B (MAFB).

Keywords: Carpal osteolysis; MAFB; Tarsal osteolysis.

MeSH terms

Arthrogryposis*
Asian People
Exons
Humans
Osteolysis* / diagnostic imaging
Osteolysis* / genetics

Supplementary concepts

Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy