ABSTRACT
OBJECTIVE: To explore the genetic etiology of a child with D bifunctional protein deficiency (DBPD) born to a consanguineous pedigree. METHODS: A child with DBPD who was admitted to the First Affiliated Hospital of Hainan Medical College on January 6, 2022 due to hypotonia and global developmental delay was selected as the study subject. Clinical data of her pedigree members were collected. Peripheral blood samples of the child, her parents and elder sisters were collected and subjected to whole exome sequencing. Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 2-year-and-9-month-old female, had featured hypotonia, growth retardation, unstable head lift, and sensorineural deafness. Serum long-chain fatty acids were elevated, and auditory brainstem evoked potentials had failed to elicit V waves in both ears with 90 dBnHL stimulation. Brain MRI revealed thinning of corpus callosum and white matter hypoplasia. The child's parents were secondary cousins. Their elder daughter had a normal phenotype and no clinical symptoms related to DBPD. Elder son had frequent convulsions, hypotonia and feeding difficulties after birth, and had died one and a half month later. Genetic testing revealed that the child had harbored homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene, for which both of her parents and elder sisters were carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.483G>T (p.Gln161His) was rated as a pathogenic variant (PM1+PM2_Supporting+PP1+PP3+PP4). CONCLUSION: The homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene caused by the consanguineous marriage probably underlay the DBPD in this child.
Subject(s)
Hearing Loss, Sensorineural , Protein Deficiency , Female , Humans , Pedigree , Muscle Hypotonia , MutationABSTRACT
Abiu fruit (Pouteria caimito [Ruiz & Pavon.] Radlk.) is endemic to the Amazonian region of South America, the fruit is also called yellow star apple, blueberry pie fruit and cauje. In this study, the chloroplast genome sequence of P. caimito was assembled and characterized using Illumina sequencing. The whole chloroplast genome of the wild species of abiu fruit is 158,916 bp, composed of four regions: a large single-copy region (88,096 bp) and a small single copy (18,620 bp) region, separated by two inverted repeat regions (26,100 bp), and the GC content is 36.83%. A total of 133 genes were annotated, including 88 that encoded proteins, eight that encoded rRNA genes and 37 that encoded tRNA genes. A maximum likelihood tree was constructed based on the sequences of chloroplast genome, the results showed that the wild species of P. caimito is the most closely related to Pouteria campechiana. This study provided abundant genomics data for the research and development of P. caimito.
ABSTRACT
Syzygium malaccense is native to Malaysia. It is sometimes called the malay apple, malay rose-apple, mountain rose-apple, mountain apple, water apple, or French cashew. The tree is very popular in many tropical and subtropical regions for its fruit and traditional medicine. The first complete chloroplast genome of Syzygium malaccense has been reported in this study. The complete chloroplast genome of Syzygium malaccense is 158,954 bp, composed of four regions: a large single-copy region with a size of 87,991 bp, a small single copy region with a size of 18,793 bp, and two inverted repeat regions with a size of 26,085 bp. The GC content is 36.97%. A total of 132 genes were annotated, including 84 encoding proteins, eight encoding rRNA genes, 37 encoding tRNA genes, and three encoding pseudo genes. Phylogenetic analysis showed that Syzygium aromaticum, Syzygium cumini, and Syzygium forrestii are closely related to Syzygium malaccense.
