title: Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.
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.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.
authors.forename: Dhanya Lakshmi
authors.initials: DL
authors.lastname: Narayanan
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Shukla
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.
authors.forename: Anju Rani
authors.initials: AR
authors.lastname: Siddesh
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.
authors.forename: Joshi
authors.initials: J
authors.lastname: Stephen
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.
authors.forename: Priyanka
authors.initials: P
authors.lastname: Srivastava
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.
authors.forename: Kausik
authors.initials: K
authors.lastname: Mandal
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India. shubha@sgpgi.ac.in.
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D002356:Cartilage; D002648:Child; D002675:Child, Preschool; D004722:Endoribonucleases; D006197:Hair / Q000473:pathology*; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D062085:RNA, Long Noncoding / Q000235:genetics*
chemical_list: C544035:RMRP non-coding RNA, human; D062085:RNA, Long Noncoding; D004722:Endoribonucleases
keywords: Cartilage-hair hypoplasia; RMRP
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