X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene

Giancarlo Parenti, Piera Buttitta, Germana Meroni, Brunella Franco, Loris Bernard, Maria Grazia Rizzolo, Nicola Brunetti-Pierri, Andrea Ballabio, Generoso Andria

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Chondrodysplasia punctata (CP) is a heterogeneous group of bone dysplasias that are characterized by abnormal calcium deposition in areas of enchondral bone formation. The existence of an X-linked recessive form of chondrodysplasia punctata (CDPX) has been recognized in patients who are nullisomic for the Xp22.3 region, presenting with complex phenotypes. The gene of CDPX has been identified recently, and five point mutations of the gene, named ARSE, have been described. Here, we report on the clinical and molecular characterization of a patient with CDPX. The patient presented at birth with cranial and facial anomalies and short stature; an x-ray skeletal survey showed punctate calcifications and striking hand and foot abnormalities. Single strand conformation polymorphism (SSCP) and sequence analysis of the patient's DNA allowed the identification of a new mutation of the ARSE gene; this mutation causes an amino acid substitution from cysteine to tyrosine at position 492 of the ARSE predicted protein product. The clinical description of patients with CDPX due to known mutation of the ARSE is of interest for the precise delineation of the clinical spectrum of the disease.

Original languageEnglish
Pages (from-to)139-143
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume73
Issue number2
DOIs
Publication statusPublished - Dec 12 1997

Fingerprint

Chondrodysplasia Punctata
Point Mutation
Genes
Mutation
Developmental Bone Disease
Amino Acid Substitution
DNA Sequence Analysis
Osteogenesis
Cysteine
Tyrosine
Foot
Hand
X-Rays
Parturition
Calcium
Phenotype
Proteins

Keywords

  • ARSE gene
  • Arylsulfatase E
  • Chondrodysplasia punctata

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. / Parenti, Giancarlo; Buttitta, Piera; Meroni, Germana; Franco, Brunella; Bernard, Loris; Rizzolo, Maria Grazia; Brunetti-Pierri, Nicola; Ballabio, Andrea; Andria, Generoso.

In: American Journal of Medical Genetics, Vol. 73, No. 2, 12.12.1997, p. 139-143.

Research output: Contribution to journalArticle

Parenti, G, Buttitta, P, Meroni, G, Franco, B, Bernard, L, Rizzolo, MG, Brunetti-Pierri, N, Ballabio, A & Andria, G 1997, 'X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene', American Journal of Medical Genetics, vol. 73, no. 2, pp. 139-143. https://doi.org/10.1002/(SICI)1096-8628(19971212)73:2<139::AID-AJMG7>3.0.CO;2-P
Parenti, Giancarlo ; Buttitta, Piera ; Meroni, Germana ; Franco, Brunella ; Bernard, Loris ; Rizzolo, Maria Grazia ; Brunetti-Pierri, Nicola ; Ballabio, Andrea ; Andria, Generoso. / X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. In: American Journal of Medical Genetics. 1997 ; Vol. 73, No. 2. pp. 139-143.
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