LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family

Nunes, Diana Noronha; Nogueira, Célia; Lopes, António; Chaves, Paula; Rodrigues, Esmeralda; Cardoso, Thyago Hermylly Santana; Leão‐Teles, Elisa; Vilarinho, Laura

doi:10.1016/j.ymgmr.2016.09.004

Cited by 7 publications

(7 citation statements)

References 6 publications

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“…More than twenty LPIN1 mutations have been described to date in several ethnic groups [4,11,[37][38][39][40]. e LPIN1 variant c.1684 G > T encoding p. Glu562 * also generates a premature stop codon resulting in synthesis of a truncated protein with loss of enzymatic activity.…”

Section: Discussionmentioning

confidence: 99%

Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature

Indika

Vidanapathirana

Jasinge

et al. 2020

Case Reports in Medicine

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Phosphatidate phosphatase-1 (lipin-1) is encoded by LPIN1 gene. Lipin-1 deficiency has been reported as the second most common cause of early-onset rhabdomyolysis after primary fatty acid oxidation disorders. We report a case of a 32-year-old Sri Lankan female with a history of more than 10 episodes of rhabdomyolysis and exercise intolerance since childhood. These episodes were triggered by infections and exercise. A temporal relationship between the acute episodes and use of drugs such as theophylline, mefenamic acid, co-trimoxazole, and combined oral contraceptive pills was also noted. There was marked elevation of serum creatine kinase and transaminases during acute episodes. Family history revealed parental consanguinity and an affected sibling who died of an acute episode associated with muscle weakness, dark coloured urine, and cyanosis, at the age of 2 years. The histochemical findings of the patient under discussion were consistent with a metabolic myopathy affecting membrane integrity. A homozygous, likely pathogenic variant c.1684G>T encoding p.(Glu562∗) was identified by clinical exome sequencing. Even though the studies to date give no convincing evidence of a possible causal or contributory relationship between the drugs under discussion and lipin-1 related rhabdomyolysis, this case highlights the importance of pharmacovigilance and reporting adverse drug reactions in patients with lipin-1 deficiency.

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Section: Discussionmentioning

confidence: 99%

Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature

Indika

Vidanapathirana

Jasinge

et al. 2020

Case Reports in Medicine

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“…A MAP3K5 mutation is related to malignant stages of prostate cancer [ 21 ]. A LPIN1 mutation causes rhabdomyolysis [ 22 ]. A MYBPC3 mutation was noted in patients with inherited hypertrophic cardiomyopathy [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

SMAD3 Hypomethylation as a Biomarker for Early Prediction of Colorectal Cancer

Ansar

Wang

et al. 2020

IJMS

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The incidence and mortality rates of colorectal cancer (CRC) have been high in recent years. Prevention and early detection are crucial for decreasing the death rate. Therefore, this study aims to characterize the alteration patterns of mothers against decapentaplegic homolog 3 (SMAD3) in patients with CRC and its applications in early detection by using a genome-wide methylation array to identify an aberrant hypomethylation site in the intron position of the SMAD3 gene. Quantitative methylation-specific polymerase chain reaction showed that hypomethylated SMAD3 occurred in 91.4% (501/548) of Taiwanese CRC tissues and 66.6% of benign tubular adenoma polyps. In addition, SMAD3 hypomethylation was observed in 94.7% of patients with CRC from The Cancer Genome Atlas dataset. A decrease in circulating cell-free methylation SMAD3 was detected in 70% of CRC patients but in only 20% of healthy individuals. SMAD3 mRNA expression was low in 42.9% of Taiwanese CRC tumor tissues but high in 29.4% of tumors compared with paired adjacent normal tissues. Hypomethylated SMAD3 was found in cancers of the digestive system, such as liver cancer, gastric cancer, and colorectal cancer, but not in breast cancer, endometrial cancer, and lung cancer. In conclusion, SMAD3 hypomethylation is a potential diagnostic marker for CRC in Western and Asian populations.

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“…In the cohort reported by Michot et al [2012], at least 40% of heterozygous relatives had myalgia. A heterozygous symptomatic mother, presenting with myalgia, muscle weakness, general fatigue, and sleep apnoea was reported by Nunes et al [2016]. More recently, the course and outcome of a 25-year-old patient having biallelic mutations in LPIN1 was reported after an episode of severe rhabdomyolysis (CK: 500,000 IU/L), with residual bilateral common peroneal neuropathies in addition to a background residual distal myopathy [Stepien et al, 2019].…”

Section: Discussionmentioning

confidence: 99%

“…Constitutive impairment of lipid metabolism and its exacerbation by proinflammatory cytokines may lead to metabolic decompensation and rhabdomyolysis [Michot et al, 2013;Hamel et al, 2015;Schweitzer et al, 2015]. Recently, Nunes et al [2016] compiled the 36 LPIN1 mutations reported to be related to rhabdomyolysis. Mutations are mostly missense and scattered throughout the LPIN1 coding region with no mutational hotspot.…”

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confidence: 99%

Intrafamilial Variability in <b><i>LPIN1</i></b>-Related Rhabdomyolysis

et al. 2020

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LPIN1 molecular alterations were identified as a major cause of severe recurrent rhabdomyolysis. The prognosis is poor, with a third of patients dying from cardiac arrest during an acute episode. We describe herein a familial case of a young boy and his mother both affected by the same homozygous LPIN1 mutation. The index case experienced a first extremely severe episode of rhabdomyolysis at 14 months of age (creatine kinase 630,000 UI/L) and a second, lethal episode • LPIN1 molecular alterations are a major cause of severe recurrent rhabdomyolysis. • The prognosis is poor, with a third of patients dying from cardiac arrest during an acute episode. Novel Insights• Here, we describe the first patient harbouring biallelic mutations in LPIN1 and only presenting with a mild phenotype. • This report expands the phenotypic spectrum of LPIN1 -related rhabdomyolysis, illustrating high intrafamilial variability.Pons et al.

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LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family

Cited by 7 publications

References 6 publications

Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature

Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature

SMAD3 Hypomethylation as a Biomarker for Early Prediction of Colorectal Cancer

Intrafamilial Variability in <b><i>LPIN1</i></b>-Related Rhabdomyolysis

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