X-LINKED RECESSIVE CHONDRODYSPLASIA PUNCTATA DUE TO A NEW POINT MUTATION OF THE ARSE GENE

Chondrodysplasia punctata (CP) is a heterogeneous group of bone dyspla sias that are characterized by abnormal calcium deposition in areas of enchondral bone formation, The existence of an X-linked recessive for m of chondrodysplasia punctata (CDPX) has been recognized in patients who are nullisomic for the Xp22.3 region, presenting with complex phen otypes, The gene of CDPX has been identified recently, and five point mutations of the gene, named ARSE, have been described, Here, we repor t on the clinical and molecular characterization of a patient with CDP X, The patient presented at birth with cranial and facial anomalies an d short stature; an x-ray skeletal survey showed punctate calcificatio ns and striking hand and foot abnormalities. Single strand conformatio n polymorphism (SSCP) and sequence analysis of the patient's DNA allow ed the identification of a new mutation of the ARSE gene; this mutatio n causes an amino acid substitution from cysteine to tyrosine at posit ion 492 of the ARSE predicted protein product, The clinical descriptio n of patients with CDPX due to known mutation of the ARSE is of intere st for the precise delineation of the clinical spectrum of the disease . (C) 1997 Wiley-Liss, Inc.