Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among “Malis (Farmers)” in Jodhpur

Jai Prakash Soni, Ratna D. Puri, Kapil Jetha, G. S.L. Bhavani, Monika Chaudhary, Sudha Kohli, I. C. Verma

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

Infantile systemic hyalinosis (OMIM 236490) is a progressive autosomal recessive disorder characterized by widespread deposition of hyaline material in many tissues leading to multiple subcutaneous skin nodules, gingival hypertrophy and joint contractures. The authors describe five children from four unrelated families, from the “mali (farmer)” community in Jodhpur, with the disorder. All of them had classical clinical features, and four died from severe infections between age of 7 mo to 3 y. Two affected children had the same, but novel mutation in the initiation codon, in homozygous form c.1 A > G; p. M1? in capillary morphogenesis protein-2 (CMG2), or ANTXR2 gene on chromosome 4q21.21. The other two parents had the same mutation in heterozygous form. It is likely that this is a founder mutation in this community.

Original languageEnglish
Pages (from-to)1341-1345
Number of pages5
JournalIndian Journal of Pediatrics
Volume83
Issue number11
DOIs
Publication statusPublished - 01-11-2016

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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