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

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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.

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Acknowledgments

The authors thank Dr. Girisha KM, Department of Medical Genetics, Kasturba Medical College, Manipal for performing the mutation analysis in one patient.

Contributions

JPS: Diagnosed all the five cases and collaborated with RDP, ICV and Dr. G Katta for test and other necessary suggestions, parent counseling, motivating parents for test of cases, parents and for prenatal testing; RDP: Helped to diagnose the first case and helped in writing the manuscript; ICV: Helped in getting genetic testing done, free of cost besides writing this manuscript; SK and GSLB: Did the genetic sequencing; KJ: Did the proof reading of the manuscript and other official works; MC: Did the follow-up of patients and patient counseling. ICV will act as guarantor for the paper.

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Authors and Affiliations

  1. Genetic Clinic, Department of Pediatrics, Mother and Chlid Hospital, MDM Hospital, Shastri Nagar, Jodhpur, Rajasthan, India

    Jai Prakash Soni, Kapil Jetha, G. S. L. Bhavani & Monika Chaudhary

  2. Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, 110060, India

    Ratna D. Puri, Sudha Kohli & I. C. Verma

Authors
  1. Jai Prakash Soni
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  2. Ratna D. Puri
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  3. Kapil Jetha
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  4. G. S. L. Bhavani
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  5. Monika Chaudhary
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  6. Sudha Kohli
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  7. I. C. Verma
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Corresponding authors

Correspondence to Jai Prakash Soni or I. C. Verma.

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Source of Funding

The authors thank the Chairman of the Hospital Management Board, Sir Ganga Ram Hospital, New Delhi to cover the cost of the molecular studies.

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Soni, J.P., Puri, R.D., Jetha, K. et al. Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among “Malis (Farmers)” in Jodhpur. Indian J Pediatr 83, 1341–1345 (2016). https://doi.org/10.1007/s12098-016-2218-8

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  • DOI: https://doi.org/10.1007/s12098-016-2218-8

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