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Journals / Journal of Clinical Research in Pediatric Endocrinology / 2015 / Cilt: 7 - Sayı: 1

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

Abdullah ÇİM
SALİH COŞKUN
Orhan GÖRÜKMEZ
HATİCE GÜLRU YÜKSEL
Ünal ULUCA
Erminia Di PİETRO
François PLOURDE
Nancy Elise BRAVERMAN
Pages
69–72
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In conclusion, the clinical presentation and peroxisome profile of the patient suggest that this novel mutation leads to RCDP type 1

📌 3 Key Takeaways

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Objective & Hypothesis:Peroxisomes are involved in various metabolic reactions.
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Key Findings & Data: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.
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Conclusion & Impact:In conclusion, the clinical presentation and peroxisome profile of the patient suggest that this novel mutation leads to RCDP type 1
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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

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Cite This Article

ÇİM, A., COŞKUN, S., GÖRÜKMEZ, O., YÜKSEL, H. G., ULUCA, Ü., PİETRO, E. D., PLOURDE, F., BRAVERMAN, N. E. (2015). Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 7 - Sayı: 1, 69–72. https://ajindex.com/articles/219772

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References (5)

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