A New Mutation in Diagnosis of Wolman Disease: Case Report

Objective & Hypothesis:Wolman disease (WD) is caused by the complete loss of lysosomal acid lipase (LAL) activity that is essential for hydrolysis of cholesterol esters and triglycerides.

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Key Findings & Data:Here, an 18-day-old female patient in whom the definite diagnosis was made by the LIPA gene sequencing is reported.

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Conclusion & Impact:Genetic analysis resulted in a novel frameshift mutation that has not been reported before.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Wolman disease (WD) is caused by the complete loss of lysosomal acid lipase (LAL) activity that is essential for hydrolysis of cholesterol esters and triglycerides. It presents with vomiting, diarrhea, poor weight gain, and hepatomegaly subsequently leading to death in infancy. Definite diagnosis is based on genetic confirmation by the LIPA gene sequencing. Several types of mutations, including point mutations, insertions, and deletions, have been reported in LIPA gene. Frameshift mutations are not frequently showed in WD. Here, an 18-day-old female patient in whom the definite diagnosis was made by the LIPA gene sequencing is reported. Genetic analysis resulted in a novel frameshift mutation that has not been reported before.

Özet

Wolman hastalığı kolesterol ester ve trigliseridlerin hidrolizinden sorumlu lizozomal asit lipaz (LAL) enzim aktivitesindeki kayıp sonucunda ortaya çıkar. Kusma, ishal, azalmış tartı alımı, hepatomegali ile karakterize olup erken süt çocukluğu döneminde ölümle sonuçlanır. Hastalığın kesin tanısı LIPA geninin moleküler analizi ile konulur. LIPA genine ait nokta mutasyonlar, insersiyon ve delesyonlar gibi farklı mutasyonlar bildirilmiş olup, Wolman hastalığında çerçeve kayma mutasyonları nadiren görülmektedir. Bu yazıda LIPA gen analizi ile Wolman hastalığının kesin tanısı konulan 18 günlük bir kız hasta sunulmuştur. Moleküler analiz sonucunda literatürde daha önce bildirilmemiş bir çerçeve kayma mutasyonu saptanmıştır.

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Cite This Article

CANSEVER, M. Ş., ASLAN, M., ZÜBARİOĞLU, T. (2019). A New Mutation in Diagnosis of Wolman Disease: Case Report. JAREM, Cilt: 9 - Sayı: 3, 150–152. https://ajindex.com/articles/178280

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