A type of blindness due to lack of rods and cones in the retina was found to be controlled by a single autosomal recessive gene, rc. The mutation was first identified in the second generation descendants of a male carrying an ethyl methanesulfonate (EMS) induced chromosome translocation involving one arm of the Z sex chromosome and the long (q) arm of chromosome 3. A linkage test between the locus causing the blindness and the translocation break-point on chromosome 3 was not significant. There is no proof that the mutation was EMS induced.
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http://dx.doi.org/10.3382/ps.0592179 | DOI Listing |
J Mol Med (Berl)
January 2025
Department of Hematology and Oncology, Children's Hospital of Nanjing Medical University, 72 Guangzhou Road, Nanjing, 210008, Jiangsu Province, China.
Glucose phosphate isomerase (GPI) deficiency caused by GPI gene mutations is a rare heterogenous condition that causes hereditary non-spherocytic hemolytic anemia (HNSHA). Patients who suffer from severe anemia may need more effective treatment. Here, clinical data and genetic testing results of two cases of HNSHA with GPI mutations treated with allogeneic hematopoietic stem cell transplantation (allo-HSCT) were retrospectively analyzed.
View Article and Find Full Text PDFBackground: Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinical applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into a public healthcare system and its implementation in the routine diagnosis process during a five-year pilot program.
Methods: Our approach involved customized probe designs, the generation of virtual panels and the development of a personalized medicine module (PMM) for variant prioritization.
Medicine (Baltimore)
January 2025
The Reproductive Medicine Centre, Weifang People's Hospital, Shandong Second Medical University, Weifang, Shandong, China.
Rationale: Microcephaly, epilepsy, and developmental delay (MCSZ) is a rare neurodevelopmental disorder associated with autosomal recessive inheritance of mutations in the polynucleotide kinase 3'-phosphatase (PNKP) gene. Prompt identification and management are essential, as delayed diagnosis or intervention may result in severe complications or mortality. In this case, prenatal screening in the second trimester detected fetal microcephaly with a gradual decline in head circumference, prompting the decision to terminate the pregnancy.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Department of Paediatric Nephrology, The Royal Children's Hospital, Melbourne, Australia.
Hepatopulmonary syndrome (HPS) is a life-threatening complication of chronic liver disease (CLD) that currently can be managed only by liver transplant. Though uncommon, some children with kidney disease have coexistent CLD and hence are at risk of developing HPS. Paediatric cases of HPS are rarely described in the nephrology literature.
View Article and Find Full Text PDFRev Esp Enferm Dig
January 2025
Digestive Diseases, Hospital Universitario Virgen de las Nieves, España.
Cholesterol ester storage disease (CESD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene, leading to reduced lysosomal acid lipase activity, cholesterol ester accumulation, and systemic manifestations including liver dysfunction and dyslipidemia. We report the case of a 25-year-old male presenting with subacute jaundice, hyperbilirubinemia (total bilirubin 51 mg/dL, predominantly direct), and dyslipidemia characterized by elevated total cholesterol and low HDL cholesterol levels. Initial diagnostic workup for acute hepatitis and liver dysfunction, including serological and imaging studies, was unremarkable.
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