Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition

Leroy, Jules; Seppälä, Raili; Huizing, Marjan; G, d'Acremont; Simpel, Helena De; Coster, Rudy N. Van; Orvisky, Edwin; Krasnewich, Donna M.; Gahl, William A.

doi:10.1086/320598

Cited by 49 publications

(43 citation statements)

References 16 publications

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“…More generally, deficits in one of the individual enzymes that reside in the lysosome also may cause stuttering or similar disorders. Speech deficits have been reported in other lysosomal storage diseases, including Tay-Sachs disease, Salla disease, and sialuria (56,60,82,99). For example, in patients with late-onset Tay-Sachs disease, stuttering has been suggested to be an early disease marker, presenting earlier than other symptoms such as muscle weakness, gait disturbance, or psychiatric disturbances (82).…”

Section: Genetic Linkage Studies Of Stutteringmentioning

confidence: 99%

Genetics of Speech and Language Disorders

Kang

Drayna

2011

Annu. Rev. Genom. Hum. Genet.

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Vocal communication mediated by speech and language is a uniquely human trait, and has served an important evolutionary role in the development of our species. Deficits in speech and language functions can be of numerous types, including aphasia, stuttering, articulation disorders, verbal dyspraxia, and specific language impairment; language deficits are also related to dyslexia. Most communication disorders are prominent in children, where they are common. A number of these disorders have been shown to cluster in families, suggesting that genetic factors are involved, but their etiology at the molecular level is not well understood. In the past decade, genetic methods have proven to be powerful for understanding these etiologies. Linkage studies and molecular genetic analyses in a large family containing multiple individuals affected with verbal dyspraxia led to the discovery of mutations in the FOXP2 gene. This gene encodes a forkhead domain transcription factor, a finding that has led researchers to a new avenue of investigation into the substrates and mechanisms that underlie human speech development. In studies of stuttering, linkage and candidate gene approaches in consanguineous families identified mutations in the lysosomal enzyme-targeting pathway genes GNPTAB, GNPTG, and NAGPA, revealing a role for inherited defects in cell metabolism in this disorder. In specific language impairment, linkage studies have identified several loci, and candidate gene association studies are making progress in identifying causal variants at these loci. Although only a small fraction of all cases of speech and language disorders can be explained by genetic findings to date, the significant progress made thus far suggests that genetic approaches will continue to provide important avenues for research on this group of disorders.

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Section: Genetic Linkage Studies Of Stutteringmentioning

confidence: 99%

Genetics of Speech and Language Disorders

Kang

Drayna

2011

Annu. Rev. Genom. Hum. Genet.

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“…This GNE gene has been known to be related to a rare autosomal dominantly inherited disorder, sialuria "French type" [12]. Three patients had heterozygous mutations (R266W, R266Q, and R263L), indicating that the allosteric site of the epimerase resides in the region of codons 263 to 266 [12,13].…”

Section: Molecular Biologic Aspectsmentioning

confidence: 99%

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy

Nonaka

Noguchi

Nishino

2005

Curr Neurol Neurosci Rep

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Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (hIBM) share similar clinical features, including onset in young adulthood with preferential involvement of the anterior compartment of the lower legs and sparing of the quadriceps femoris muscles. The most significant muscle pathology is the presence of rimmed vacuoles, which appear to play a major role in muscle atrophy and weakness. After the discovery of the gene locus in both DMRV and hIBM on chromosome 9 and mutations in the gene encoding the enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), it became clear that they are allelic disorders. From gene analysis, it is evident that these diseases are not restricted to people of Japanese and Jewish ancestry, but that they are widely distributed throughout all ethnic groups. Although defective glycosylation to a muscle fiber has been suggested, the mechanism by which myofibrillar degeneration is followed by rimmed vacuole formation remains to be clarified.

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“…A nonlysosomal disorder that will be detected in a screen of sialic acid content is sialuria. 29 This is a relatively mild disorder that results from the excessive synthesis of sialic acid due to the lack of feedback inhibition at the UDP-N-acetyl-glucosamine-2-epimerase step. Recent studies have demonstrated that this disease could be inherited as a dominant trait.…”

Section: Lysosomal Disorders: Diagnosis and Treatmentmentioning

confidence: 99%

Lysosomal storage disorders: Diagnostic dilemmas and prospects for therapy

Wenger

Coppola

Liu

2002

Genetics in Medicine

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Purpose: The main purpose of this review is to address some concerns regarding the accurate and timely diagnosis of lysosomal storage disorders (LSD). Methods: Using their experience in diagnosing LSD in more than 2500 individuals, the authors highlight several diagnostic difficulties and solutions and review the latest methods for early diagnosis and treatment. Results: While "classic" patients can be accurately diagnosed using relatively simple methods in an experienced laboratory, atypical patients require more detailed studies. With a few exceptions, almost all LSD can be diagnosed in leukocytes or plasma. Methods for screening all newborns without a family history of a LSD have been proposed, but such screening may require a large amount of effort for little gain.Conclusions: With effective therapy becoming available for some LSD, early diagnosis is critically important. If the goal is to prevent serious complications related to the nervous and skeletal systems, earlier diagnosis is potentially advantageous. Accurate prognosis and assessing the need for aggressive therapy in newly diagnosed patients are problems that need further study. Genet Med 2002:4(6):412-419.

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Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition

Cited by 49 publications

References 16 publications

Genetics of Speech and Language Disorders

Genetics of Speech and Language Disorders

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy

Lysosomal storage disorders: Diagnostic dilemmas and prospects for therapy

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