Alpers–Huttenlocher syndrome presenting with epilepsia partialis continua

Kentab, Amal Y.

doi:10.15406/jnsk.2019.09.00342

Cited by 2 publications

(2 citation statements)

References 18 publications

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“…Thirty-four patients (including the proband) with the c.3286C>T variant were identified. Of those, 18 were homozygous, 15 were compound heterozygous, and one was single heterozygous [ 1 , 3 , 4 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 ]. A single heterozygous c.3286C>T variant was reported in a patient affected with progressive external ophthalmoplegia without neurological symptoms [ 24 ].…”

Section: Discussionmentioning

confidence: 99%

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant

Sriwattanapong

Rojnueangnit

Theerapanon

et al. 2021

IJNS

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A variant in the POLG gene is the leading cause of a heterogeneous group of mitochondrial disorders. No definitive treatment is currently available. Prenatal and newborn screening have the potential to improve clinical outcome of patients affected with POLG-related disorders. We reported a 4-month-old infant who presented with developmental delay, fever, and diarrhea. Within two weeks after hospital admission, the patient developed hepatic failure and died. Liver necropsy demonstrated an extensive loss of hepatocytes and bile duct proliferations. Trio-whole exome sequencing identified that the patient was compound heterozygous for a novel frameshift variant c.3102delG (p.Lys1035Serfs*59) and a common variant c.3286C>T (p.Arg1096Cys) in POLG (NM_002693.3) inherited from the mother and father, respectively. The c.3102delG (p.Lys1035Serfs*59) was a null variant and classified as pathogenic according to the American College of Medical Genetics and Genomics Standards and Guidelines. Prenatal genetic screenings using rapid whole exome sequencing successfully detected the heterozygous c.3286C>T variant in the following pregnancy and the normal alleles in the other one. Both children had been healthy. We reviewed all 34 cases identified with the POLG c.3286C>T variant and found that all 15 compound heterozygous cases had two missense variants except our patient who had the truncating variant and showed the earliest disease onset, rapid deterioration, and the youngest death. All homozygous cases had disease onset before age 2 and developed seizure. Here, we report a novel POLG variant expanding the genotypic spectrum, demonstrate the successful use of exome sequencing for prenatal and neonatal screenings of POLG-related disorders, and show the genotype–phenotype correlation of the common c.3286C>T variant.

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Section: Discussionmentioning

confidence: 99%

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant

Sriwattanapong

Rojnueangnit

Theerapanon

et al. 2021

IJNS

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“…AHS is characterized by liver failure and uncontrollable seizures and is an early onset, deadly disease. The symptoms of AHS can progress into Epilepsia partialis continua and neurologic deterioration [214]. SANDO [215] and SCAE [216,217] syndromes have also been identified in northern Europe due to POLG mutations.…”

Section: Polg Mutations and Associated Phenotypesmentioning

confidence: 99%