Dataset Information

Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants.

ABSTRACT: Recurrent rhabdomyolysis is frequently ascribed to fatty acid ß-oxidation defects, mitochondrial respiratory chain disorders and glycogen storage-related diseases. In recent years, autosomal recessive LPIN1 mutations have been identified as a prevailing cause of severe rhabdomyolysis in children in Western countries. We report the first probable Hong Kong Chinese case of recurrent severe rhabdomyolysis in early childhood caused by LPIN1 variants. Compound heterozygous novel variants NM_145693.2(LPIN1):c.[1949_1967dupGTGTCACCACGCAGTACCA]; [2410G>C] (p.[Gly657Cysfs*12];[Asp804His]) were detected. The former variant was classified as likely pathogenic while the latter variant was classified as a variant of uncertain significance (VUS) based on the guideline published by the American College of Medical Genetics and Genomics (ACMG) in 2015. Although the genetic findings were inconclusive, the patient's presentation was compatible with LPIN1-related acute recurrent rhabdomyolysis, and the patient was treated as such. The early recognition, timely diagnosis and management of this condition are important to avoid fatal consequences. To our knowledge, there has been no previous report in the English-language literature of a child with Chinese ethnicity and LPIN1-related acute recurrent rhabdomyolysis (MIM #268200). Functional characterization of the novel variants detected in this study are warranted in future studies.

SUBMITTER: Yim SW

PROVIDER: S-EPMC6823901 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants.

Yim Sau Wing SW Chan Tina Yee Ching TYC Belaramani Kiran M KM Man Sze Shun SS Wong Felix Chi Kin FCK Chen Sammy Pak Lam SPL Lee Hencher Han Chih HHC Mak Chloe Miu CM Ching Chor Kwan CK

F1000Research 20190902

Recurrent rhabdomyolysis is frequently ascribed to fatty acid ß-oxidation defects, mitochondrial respiratory chain disorders and glycogen storage-related diseases. In recent years, autosomal recessive LPIN1 mutations have been identified as a prevailing cause of severe rhabdomyolysis in children in Western countries. We report the first probable Hong Kong Chinese case of recurrent severe rhabdomyolysis in early childhood caused by LPIN1 variants. Compound heterozygous novel variant ...[more]

PMID: 31723421

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Dataset Information

Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants.

Publications

Case Report: The first probable Hong Kong Chinese case of <i>LPIN1</i>-related acute recurrent rhabdomyolysis in a boy with two novel variants.

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