Akademik Veri Yönetim Sistemi
European Human Genetics Conference, Berlin, Almanya, 1 - 04 Haziran 2024, ss.1021, (Özet Bildiri)
Background/Objectives: Mucolipidosis II alpha/beta (I-cell disease; OMIM # 252500) is a rare autosomal recessive lysosomal storage disorder. Mucolipidosis II alpha/beta (MLII) is characterized by dysmorphic features, cardiac involvement, respiratory symptoms, dysostosis multiplex, severe growth abnormalities, mental and motor developmental abnormalities. MLII is caused by homozygous or compound heterozygous mutations in the GNPTAB gene. We report a case of a female newborn with MLII who presented with novel clinical features, including sialic aciduria, sacral dimple, and secundum ASD. Methods: After obtaining informed consent from the family, biochemical and molecular studies were initiated. Karyotype analysis was performed, followed by targeted next-generation sequencing (NGS) using the ROCHE kit and MGI DNBSEQ-400 device. The results were interpreted using the Genomize Seq program. Results: Biochemical findings indicated the following: (1) Increased urinary excretion of glycosaminoglycans, oligosaccharides and sialic acid. (2) Normal tandem mass spectrometry assay. (3) The results from enzyme assays are still pending. The proband showed clinical features of MLII, such as recurrent pneumonia, thickened skin, feeding problems, and coarsened facial features. The karyotype of the patient was 46, XX. NGS identified a nonsense likely pathogenic homozygous variant in the GNPTAB gene (NM_024312.5: c.3061 C > T; p.(Gln1021Ter)). Conclusion: Here, we discussed a patient who was diagnosed with MLII based on molecular assays, clinical and biochemical examination. To our knowledge, the patient’s new findings such as sialic aciduria, sacral dimple and secundum ASD has not been previously described in the literature. Our findings contribute to the global pool of data, providing practical insights into the manifestations of I-cell disease.