A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days. The main clinical manifestations were uncontrolled seizures, hypoergia, feeding difficulties, limb hypotonia, and bilateral hearing impairment. Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burst-suppression pattern on electroencephalogram. Measurement of very-long-chain fatty acids in serum showed that C26:0 was significantly increased. Genetic testing showed a pathogenic compound heterozygous mutation, c.101C>T(p.Ala34Val) and c.1448_1460del(p.Ala483Aspfs*37), in the
Genetic Testing ; Humans ; Infant, Newborn ; Male ; Muscle Hypotonia ; Mutation ; Peroxisomal Multifunctional Protein-2/genetics* ; Protein Deficiency/genetics*

OBJECTIVETo investigate the alteration of the gene HSD17B4 in esophageal squamous cell carcinoma and its potential significance.

METHODSThe mRNA expression and loss of heterozygosity (LOH) of HSD17B4 in 40 primary esophageal tumors were detected by reverse transcriptase-polymerase chain reaction (RT-PCR) and microsatellite analysis with the intragenic marker D5S1384 of the gene.

RESULTSThe frequencies of allelic loss of D5S1384 and the rate of down-regulation of gene HSD17B4 were 46.2% and 62.5%, respectively.

CONCLUSIONHSD17B4 may be a candidate tumor suppressor gene associated with esophageal squamous cell carcinoma.

17-Hydroxysteroid Dehydrogenases ; biosynthesis ; genetics ; Adult ; Aged ; Carcinoma, Squamous Cell ; genetics ; Down-Regulation ; Enoyl-CoA Hydratase ; biosynthesis ; genetics ; Esophageal Neoplasms ; genetics ; Female ; Gene Expression ; Gene Expression Regulation, Neoplastic ; genetics ; Genes, Tumor Suppressor ; Humans ; Hydro-Lyases ; Loss of Heterozygosity ; Male ; Microsatellite Repeats ; Middle Aged ; Multienzyme Complexes ; biosynthesis ; genetics ; Peroxisomal Multifunctional Protein-2 ; RNA, Messenger ; biosynthesis ; genetics ; Reverse Transcriptase Polymerase Chain Reaction