Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology

Kasapkara, Çiğdem Seher; Akçaboy, Meltem; Eroğlu, Fehime Kara; Derinkuyu, Betül Emine

doi:10.5606/archrheumatol.2018.6262

Cited by 4 publications

(3 citation statements)

References 7 publications

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“…The diagnosis is really challenging. 19 We described the difficulties found in the prenatal diagnosis of a heterozygous individual, the brother of a patient in our cohort. 20 In one of the patients, with very mild phenotype suggesting ML III, the diagnosis was just Fig.…”

Section: Discussionmentioning

confidence: 99%

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

et al. 2019

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Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are multisystemic. Clinical and demographic data from 1983 to 2013 were obtained retrospectively. Twenty-seven patients were included (ML II = 15, ML III α/beta = 9, ML III gamma = 3). The median age at diagnosis was 2.7 years. The predominant clinical presentations were skeletal symptoms. The ML II patients showed physical and cognitive impairment, while the ML III α/beta patients have more somatic abnormalities and usually were delayed in early development as compared with ML III gamma patients. This is the most comprehensive study exploring characteristics of Brazilian patients with MLs II and III.

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Section: Discussionmentioning

confidence: 99%

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

et al. 2019

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“…Mucolipidosis type II (ML II) is an autosomal recessive lysosomal storage disorder with disturbed metabolism of many mucopolysaccharides or GAGs giving rise to clinical features similar to those encountered in patients with mucopolysaccharidoses (MPS). It resulted from impaired trafficking of lysosomal hydrolases to lysosomes due to total or near total deficiency of GlcNAcphosphotransferase enzyme [3,8,12,29].…”

Section: Discussionmentioning

confidence: 99%

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

Essawi

Fateen

Atia

et al. 2021

Journal of Genetic Engineering and Biotechnology

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Background Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by skeletal deformities and developmental delay. Homozygous or compound heterozygous mutations in GNPTAB gene are associated with the clinical presentation. This is the first study to characterize the underlying genetics of ML among a cohort of Egyptian patients. ML II diagnosis established by clinical assessment, biochemical evaluation of enzymes, electron microscopy examination of gingival inclusion bodies, and molecular study of GNPTAB gene using targeted next-generation sequencing panel in 8 patients form 8 unrelated Egyptian families. Results Sequencing revealed 3 mutations in GNPTAB gene; 1 novel frame-shift mutation in exon 19 (c.3488_3488delC) and 2 previously reported mutations (c.1759C>T in exon 13 and c.3503_3504delTC in exon 19). All patients were homozygous for their corresponding mutations and the parents were consanguineous. Conclusions According to the established quaternary diagnostic scheme, ML II was the final diagnosis in eight patients. The most common mutation was the frame shift c.3503_3504delTC mutation, found in 5 patients and associated with a severe phenotype.

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“…Thereby, ML III α/β and ML III γ are almost indiscernible Clinically [ 12 ]. Rheumatologic disorders, such as juvenile idiopathic rheumatoid arthritis, progressive pseudorheumatoid arthritis of childhood and scleroderma, are usually suspected in individuals with ML III [ 13 , 14 ]. Our proband exhibited notably dermatological and rheumatological manifestations mimicking scleroderma.…”

Section: Discussionmentioning

confidence: 99%

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease

Zrhidri¹,

Amasdl²,

Lyahyai³

et al. 2017

Pediatr Rheumatol

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BackgroundScleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis for this condition is defined by multiple genes that have only modest effect on disease susceptibility.MethodsThree Moroccan siblings, born from non-consanguineous Moroccan healthy parents were referred for genetic evaluation of familial scleroderma. Whole Exome Sequencing was performed in the proband and his parents, in addition to Sanger sequencing that was carried out to confirm the results obtained.ResultsMutation analysis showed two compound heterozygous mutations c.196C>T in exon 4 and c.635_636delTT in exon 9 of GNPTG gene. Sanger sequencing confirmed these mutations in the affected patient and demonstrated that their parents are heterozygous carriers.ConclusionOur findings expand the mutation spectrum of the GNPTG gene and extend the knowledge of the phenotype–genotype correlation of Mucolipidosis Type III gamma. This report also highlights the diagnostic utility of Next Generation Sequencing particularly when the clinical presentation did not point to specific genes.

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Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology

Cited by 4 publications

References 7 publications

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease

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