Literature DB >> 23949991

Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.

Ankur Singh1, Rajeshwari Krishnan, Malobika Bhattacharya, Gaurav Pradhan, Ulrich Salzer, Seema Kapoor.   

Abstract

Cartilage hair hypoplasia is a genetic disease, characterized by generalized metaphyseal dysplasia mainly affecting the knee joints. Variable extraskeletal features like anemia, malabsorption, impaired spermatogenesis, impaired immunity, and malignancies have been reported. The work up of malabsorption and short stature led to the diagnosis of celiac disease in three previous cases of cartilage hair hypoplasia. Here, we report an Indian girl with a novel genotype, diagnosed as celiac disease with cartilage hair hypoplasia, and review the previous three cases.

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Year:  2013        PMID： 23949991     DOI： 10.1007/s12664-013-0358-6

Source DB:  PubMed          Journal:  Indian J Gastroenterol        ISSN： 0254-8860


  10 in total

1.  Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.

Authors:  Chaim M Roifman; Yiping Gu; Amos Cohen
Journal:  J Allergy Clin Immunol       Date:  2006-04       Impact factor: 10.793

2.  DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.

Authors:  V A MCKUSICK; R ELDRIDGE; J A HOSTETLER; U RUANGWIT; J A EGELAND
Journal:  Bull Johns Hopkins Hosp       Date:  1965-05

3.  Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.

Authors:  Fotini D Kavadas; Silvia Giliani; Yiping Gu; Evelina Mazzolari; Andrea Bates; Eleonora Pegoiani; Chaim M Roifman; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2008-09-19       Impact factor: 10.793

4.  Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.

Authors:  Kerstin Reicherter; Amithkumar Iynapillai Veeramani; Sujatha Jagadeesh
Journal:  Indian Pediatr       Date:  2011-07       Impact factor: 1.411

5.  Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Authors:  M Ridanpää; H van Eenennaam; K Pelin; R Chadwick; C Johnson; B Yuan; W vanVenrooij; G Pruijn; R Salmela; S Rockas; O Mäkitie; I Kaitila; A de la Chapelle
Journal:  Cell       Date:  2001-01-26       Impact factor: 41.582

6.  Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.

Authors:  Christian T Thiel; Denise Horn; Bernhard Zabel; Arif B Ekici; Kelly Salinas; Erich Gebhart; Franz Rüschendorf; Heinrich Sticht; Jürgen Spranger; Dietmar Müller; Christiane Zweier; Mark E Schmitt; André Reis; Anita Rauch
Journal:  Am J Hum Genet       Date:  2005-09-29       Impact factor: 11.025

7.  RMRP mutations in cartilage-hair hypoplasia.

Authors:  Pia Hermanns; Alyssa Tran; Elda Munivez; Susan Carter; Bernhard Zabel; Brendan Lee; Jules G Leroy
Journal:  Am J Med Genet A       Date:  2006-10-01       Impact factor: 2.802

8.  Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia.

Authors:  O M Mäkitie; P J Tapanainen; L Dunkel; M A Siimes
Journal:  Ann Med       Date:  2001-04       Impact factor: 4.709

9.  RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.

Authors:  L Bonafé; K Schmitt; G Eich; A Giedion; A Superti-Furga
Journal:  Clin Genet       Date:  2002-02       Impact factor: 4.438

10.  Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

Authors:  Maaret Ridanpää; Pertti Sistonen; Susanna Rockas; David L Rimoin; Outi Mäkitie; Ilkka Kaitila
Journal:  Eur J Hum Genet       Date:  2002-07       Impact factor: 4.246
  10 in total
  1 in total

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

Authors:  Dhanya Lakshmi Narayanan; Anju Shukla; Anju Rani Siddesh; Joshi Stephen; Priyanka Srivastava; Kausik Mandal; Shubha R Phadke
Journal:  Indian J Pediatr       Date:  2016-02-01       Impact factor: 1.967
  1 in total

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