title: Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur.
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.
authors.affiliation: Genetic Clinic, Department of Pediatrics, Mother and Chlid Hospital, MDM Hospital, Shastri Nagar, Jodhpur, Rajasthan, India. doc_jpsoni@yahoo.com.
authors.forename: Jai Prakash
authors.initials: JP
authors.lastname: Soni
authors.affiliation: Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, 110060, India.
authors.forename: Ratna D
authors.initials: RD
authors.lastname: Puri
authors.affiliation: Genetic Clinic, Department of Pediatrics, Mother and Chlid Hospital, MDM Hospital, Shastri Nagar, Jodhpur, Rajasthan, India.
authors.forename: Kapil
authors.initials: K
authors.lastname: Jetha
authors.affiliation: Genetic Clinic, Department of Pediatrics, Mother and Chlid Hospital, MDM Hospital, Shastri Nagar, Jodhpur, Rajasthan, India.
authors.forename: G S L
authors.initials: GS
authors.lastname: Bhavani
authors.affiliation: Genetic Clinic, Department of Pediatrics, Mother and Chlid Hospital, MDM Hospital, Shastri Nagar, Jodhpur, Rajasthan, India.
authors.forename: Monika
authors.initials: M
authors.lastname: Chaudhary
authors.affiliation: Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, 110060, India.
authors.forename: Sudha
authors.initials: S
authors.lastname: Kohli
authors.affiliation: Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, 110060, India. icverma@gmail.com.
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D002648:Child; D018387:Codon, Initiator; D000067565:Farmers; D006801:Humans; D057770:Hyaline Fibromatosis Syndrome / Q000235:genetics*; D009154:Mutation; D018000:Receptors, Peptide / Q000235:genetics
chemical_list: C447150:ANTXR2 protein, human; D018387:Codon, Initiator; D018000:Receptors, Peptide
keywords: ANTXR2 gene; CMG2 gene; Hyaline fibromatosis syndrome; Infantile systemic hyalinosis (ISH); “Mali (farmer) community in Jodhpur”