Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis

Liang, Bo; He, Haibo; Zhang, Jiaxiang; Chen, Gang; Kong, Xianguo; Zhu, Mengting; Wang, Peiguang; Tang, Lili

doi:10.3389/fgene.2022.847321

Cited by 3 publications

(3 citation statements)

References 21 publications

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“…The down-regulation of ABHD5 expression demonstrated in this work in MPS I, IIIA, IIIB, IIID, and VII was also observed in other CNS disorders. Mutations of this gene have been observed in patients with neutral lipid storage disease with neurological disorders [ 66 ] as well as Chanarin-Dorfman syndrome [ 67 ]. In both of these conditions, both somatic and neuronal symptoms appear.…”

Section: Discussionmentioning

confidence: 99%

“…In both of these conditions, both somatic and neuronal symptoms appear. In addition to hepatic steatosis, skeletal myopathy, cardiomyopathy, and growth retardation, there are bilateral cataracts, ataxia, bilateral sensorineural hearing loss, and intellectual disability [ 67 , 68 ]. PDE4DIP, encoded by the gene of the same name, also appears to be an interesting protein.…”

Section: Discussionmentioning

confidence: 99%

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Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases

Wiśniewska,

Gaffke,

Żabińska

et al. 2024

CIMB

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Mucopolysaccharidoses (MPS) are a group of diseases caused by mutations in genes encoding lysosomal enzymes that catalyze reactions of glycosaminoglycan (GAG) degradation. As a result, GAGs accumulate in lysosomes, impairing the proper functioning of entire cells and tissues. There are 14 types/subtypes of MPS, which are differentiated by the kind(s) of accumulated GAG(s) and the type of a non-functional lysosomal enzyme. Some of these types (severe forms of MPS types I and II, MPS III, and MPS VII) are characterized by extensive central nervous system disorders. The aim of this work was to identify, using transcriptomic methods, organelle-related genes whose expression levels are changed in neuronopathic types of MPS compared to healthy cells while remaining unchanged in non-neuronopathic types of MPS. The study was conducted with fibroblast lines derived from patients with neuronopathic and non-neuronopathic types of MPS and control (healthy) fibroblasts. Transcriptomic analysis has identified genes related to cellular organelles whose expression is altered. Then, using fluorescence and electron microscopy, we assessed the morphology of selected structures. Our analyses indicated that the genes whose expression is affected in neuronopathic MPS are often associated with the structures or functions of the cell nucleus, endoplasmic reticulum, or Golgi apparatus. Electron microscopic studies confirmed disruptions in the structures of these organelles. Special attention was paid to up-regulated genes, such as PDIA3 and MFGE8, and down-regulated genes, such as ARL6IP6, ABHD5, PDE4DIP, YIPF5, and CLDN11. Of particular interest is also the GM130 (GOLGA2) gene, which encodes golgin A2, which revealed an increased expression in neuronopathic MPS types. We propose to consider the levels of mRNAs of these genes as candidates for biomarkers of neurodegeneration in MPS. These genes may also become potential targets for therapies under development for neurological disorders associated with MPS and candidates for markers of the effectiveness of these therapies. Although fibroblasts rather than nerve cells were used in this study, it is worth noting that potential genetic markers characteristic solely of neurons would be impractical in testing patients, contrary to somatic cells that can be relatively easily obtained from assessed persons.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases

Wiśniewska,

Gaffke,

Żabińska

et al. 2024

CIMB

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“…Since its discovery, fewer than 120 cases of CDS have been reported in the literature, particularly in Mediterranean and Middle Eastern countries [7][8][9], especially Turkey, with a few cases also reported in China, making it an extremely rare disorder. Despite its rarity, CDS poses a substantial challenge to clinicians due to its broad spectrum of symptoms.…”

Section: Introductionmentioning

confidence: 99%

Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder

Mangukiya,

Kaleem,

Meghana

et al. 2023

Cureus

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Chanarin-Dorfman syndrome (CDS) is a rare medical condition that is inherited in an autosomal recessive pattern. In CDS, a comparative gene identification-58 gene mutation causes the accumulation of triglycerides in neutrophils, which can be observed as vacuoles on a peripheral smear. CDS patients present with a characteristic dermatological finding, ichthyosis, which is a non-bullous white scaling of the skin. Here, we describe a case report of a one-year-old boy who presented to the pediatric outpatient department (OPD) with chief complaints of peeling of the skin and ballooning of the abdomen since birth. Our patient had achieved all the developmental milestones pertaining to his age. Genetic testing was positive for heterozygous alleles in both parents.

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Navigating Surgical Challenges: Managing Juvenile Glaucoma in a Patient with Dorfman–Chanarin Syndrome

Anton,

Dohotariu,

Pîrvulescu

et al. 2024

Biomedicines

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We report a surgically challenging case, in the context of a diagnosis of juvenile glaucoma refractory to drug therapy, multi-operated, known patient with congenital ichthyosis, part of Dorfman–Chanarin Syndrome (DCS), with a single functional eye. She is a young patient (54) and housewife in an urban environment known to have DCS and BE (both eyes), strong myopia, and congenital nystagmus. She initially underwent cataract surgery in 2015 and again in 2017. As of 2015, she was known to have juvenile glaucoma under maximal therapy. The important increases in pressure started in 2020 when the dermatological condition worsened (exacerbation of skin changes in the context of ichthyosis), the patient is in menopause, and presbyopia has set in. The glaucoma could no longer be controlled with medication and required serial surgery in both eyes (initially in the right eye in 2020 and in the left eye in 2023). The right eye showed a favorable evolution until 2024, when a second trabeculectomy became necessary, with a favorable evolution. Conclusions: To our knowledge, such a case has not been documented in the medical literature. Frequent monitoring of intraocular pressures and prompt treatment are required. It is a rare association, a very complicated case of managing a patient with refractory glaucoma and multiple associated ophthalmic and systemic pathologies. We are also dealing with a single functional eye, difficult to manage due to a thin sclera that has caused intraoperative difficulties, and the association of congenital nystagmus and strabismus.

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Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis

Cited by 3 publications

References 21 publications

Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases

Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases

Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder

Navigating Surgical Challenges: Managing Juvenile Glaucoma in a Patient with Dorfman–Chanarin Syndrome

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