Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene

Dhanya Lakshmi Narayanan; Anju Shukla; Anju Rani Siddesh; Joshi Stephen; Priyanka Srivastava; Kausik Mandal; Shubha R. Phadke

doi:10.1007/s12098-015-1947-4

Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene

Dhanya Lakshmi Narayanan, Anju Shukla, Anju Rani Siddesh, Joshi Stephen, Priyanka Srivastava, Kausik Mandal, Shubha R. Phadke

Department of Medical Genetics, Kasturba Medical College, Manipal

Research output: Contribution to journal › Article

2 Citations (Scopus)

Abstract

Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by short stature, metaphyseal dysplasia, hypotrichosis and immunodeficiency. More than 90 different biallelic mutations in RMRP gene have been identified to cause this condition. Three cases previously reported from India showed novel mutations in RMRP gene. The authors report two unrelated cases with the more common g.70A > G mutation, stressing the need to screen for this mutation in Indian population having features of cartilage-hair hypoplasia.

Original language	English
Pages (from-to)	1003-1005
Number of pages	3
Journal	Indian Journal of Pediatrics
Volume	83
Issue number	9
DOIs	https://doi.org/10.1007/s12098-015-1947-4
Publication status	Published - 01-09-2016

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

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Narayanan, D. L., Shukla, A., Siddesh, A. R., Stephen, J., Srivastava, P., Mandal, K., & Phadke, S. R. (2016). Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene. Indian Journal of Pediatrics, 83(9), 1003-1005. https://doi.org/10.1007/s12098-015-1947-4

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