title: Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
abstract: 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.
authors: Dicle University Faculty of Medicine, Department of Medical Genetics, Diyarbakır, Turkey. E-mail: drabdullahcim@yahoo.com.
authors: Abdullah
authors: A
authors: Çim
authors: Salih
authors: S
authors: Coşkun
authors: Orhan
authors: O
authors: Görükmez
authors: Hatice
authors: H
authors: Yüksel
authors: Ünal
authors: Ü
authors: Uluca
authors: Erminia Di
authors: ED
authors: Pietro
authors: François
authors: F
authors: Plourde
authors: Nancy Elise
authors: NE
authors: Braverman
mesh_terms: D002648:Child; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D000074437:Peroxisomal Targeting Signal 2 Receptor; D010831:Phytanic Acid / Q000378:metabolism; D016133:Polymerase Chain Reaction; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*
chemical_list: C000614269:PEX7 protein, human; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear; D010831:Phytanic Acid