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HSD17B4 mutation: an unusual cause of cerebellar ataxia.
Neurol Sci
February 2025
Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
Mol Biol Rep
July 2024
Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco.
Article Synopsis
- Syndromic hearing loss (SHL) is a condition involving hearing impairment and other health issues, with over 400 known syndromes, making early diagnosis crucial for managing associated risks.
- This study analyzed the genetic causes of hearing loss in three Moroccan patients using whole exome sequencing, discovering specific mutations linked to Perrault syndrome and D-bifunctional protein deficiency.
- The findings emphasize the power of whole exome sequencing and bioinformatics in identifying harmful genetic mutations and understanding their impacts on protein function.
D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature.
Int J Mol Sci
April 2024
Faculty of Medicine, Lucian Blaga University, 550025 Sibiu, Romania.
D-bifunctional protein deficiency (D-BPD) is a rare, autosomal recessive peroxisomal disorder that affects the breakdown of long-chain fatty acids. Patients with D-BPD typically present during the neonatal period with hypotonia, seizures, and facial dysmorphism, followed by severe developmental delay and early mortality. While some patients have survived past two years of age, the detectable enzyme activity in these rare cases was likely a contributing factor.
View Article and Find Full Text PDFA Homozygous Missense Variant in Identified in Two Different Families.
Mol Syndromol
March 2024
Department of Pediatric Neurology, Faculty of Medicine, Farabi Hospital, Karadeniz Technical University, Trabzon, Turkey.
Background: Perrault syndrome is an inherited disorder with clinical findings that differ according to sex. It is characterized by a variable age of onset and sensorineural hearing loss in both sexes, as well as ovarian dysfunction in females with a 46,XX karyotype. Although it is a rare autosomal recessive syndrome, with approximately 100 affected individuals reported in the literature, it shows both genotypic and phenotypic variations.
View Article and Find Full Text PDFPerrault syndrome: The Way Forward After Genetic Counselling?
BMJ Case Rep
March 2024
Neonatology, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India
A female, term neonate, born via vaginal delivery to a G5P1D1A3 hypothyroid mother with a history of an elder sibling being homozygous for mutation, diagnosed while working up his progressive neurological disorder and succumbing to the same. The family screening revealed that both parents were heterozygous carriers of the same mutation in the gene After genetic counselling, amniocentesis revealed the fetus to be having homozygosity for the same mutation. In view of precious pregnancy, normal antenatal scans and investigations, the pregnancy was continued, and baby was born with a birth weight of 2.
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