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 language | English |
|---|---|
| Pages (from-to) | 139-143 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics |
| Volume | 73 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Dec 12 1997 |
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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 journal › Article
}
TY - JOUR
T1 - X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene
AU - Parenti, Giancarlo
AU - Buttitta, Piera
AU - Meroni, Germana
AU - Franco, Brunella
AU - Bernard, Loris
AU - Rizzolo, Maria Grazia
AU - Brunetti-Pierri, Nicola
AU - Ballabio, Andrea
AU - Andria, Generoso
PY - 1997/12/12
Y1 - 1997/12/12
N2 - 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.
AB - 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.
KW - ARSE gene
KW - Arylsulfatase E
KW - Chondrodysplasia punctata
UR - http://www.scopus.com/inward/record.url?scp=0030783926&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030783926&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19971212)73:2<139::AID-AJMG7>3.0.CO;2-P
DO - 10.1002/(SICI)1096-8628(19971212)73:2<139::AID-AJMG7>3.0.CO;2-P
M3 - Article
C2 - 9409863
AN - SCOPUS:0030783926
VL - 73
SP - 139
EP - 143
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -