Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene
Abdullah Çim1, Salih Coşkun1, Orhan Görükmez2, Hatice Yüksel3, Ünal Uluca4, Erminia Di Pietro5, François Plourde5, Nancy Elise Braverman51Dicle University Faculty Of Medicine, Department Of Medical Genetics, Diyarbakır, Turkey2Şevket Yılmaz Training And Research Hospital, Clinic Of Medical Genetics, Bursa, Turkey
3Dicle University Faculty Of Medicine, Department Of Biochemistry, Diyarbakır, Turkey
4Dicle University Faculty Of Medicine, Department Of Pediatrics, Diyarbakır, Turkey
5Mcgill University And The Research Institute Of The Muhc, Department Of Pediatrics And Human Genetics, Quebec, Canada
Peroxisomes are involved in various metabolic reactions. Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner. We present a nine-year-old boy with skeletal abnormalities and dysmorphic facial appearance. The patient was born to parents who were first cousins. Very-long-chain fatty acids and pristanic acid levels were in the normal range, but an elevated phytanic acid level was detected by gas chromatography/mass spectrometry. The PEX7 gene was sequenced in the patient and his parents. A novel homozygous mutation, c.192delT (p.F64Lfs*10), was identified in the patient and was present in heterozygosity in both parents. In conclusion, the clinical presentation and peroxisome profile of the patient suggest that this novel mutation leads to RCDP type 1.
Keywords: PEX7,novel,mutation,peroxisomal disorders,chondrodysplasia punctata,rhizomelicManuscript Language: English
