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A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.

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Title: A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
Authors: Pravinbabu, Pooja (AUTHOR), Holla, Vikram V. (AUTHOR), Phulpagar, Prashant (AUTHOR), Kamble, Nitish (AUTHOR), Netravathi, Manjunath (AUTHOR), Yadav, Ravi (AUTHOR), Pal, Pramod Kumar (AUTHOR), Muthusamy, Babylakshmi (AUTHOR)
Source: Neurological Sciences. Jul2022, Vol. 43 Issue 7, p4463-4472. 10p. 1 Black and White Photograph, 1 Diagram, 1 Chart, 1 Graph.
Subjects: Charcot-Marie-Tooth disease, Motor neuron diseases, Genetic variation, Muscle weakness, Hearing disorders, Glycogen storage disease type II
Abstract: Charcot-Marie-Tooth disease, type 4D (CMT4D) is a progressive, autosomal recessive form of CMT, characterized by distal muscle weakness and atrophy, foot deformities, severe motor sensory neuropathy, and sensorineural hearing impairment. Mutations in NDRG1 gene cause neuropathy in humans, dogs, and rodents. Here, we describe clinical and genetic features of a 17-year-old male with wasting of hand muscle and foot and severe motor neuropathy. Whole exome sequencing was carried out on the patient and his unaffected parents. We identified a novel deletion of nine nucleotides (c.537 + 2_537 + 10del) on the splice donor site of intron 8 in NDRG1 gene. The Sanger sequencing confirmed the segregation of this mutation in autosomal recessive inheritance. Furthermore, transcript analysis confirmed a splice defect and reveals using of an alternate cryptic splice donor site on the downstream intronic region. It resulted in an insertion of 42 nucleotides to exon 8 of NDRG1. Translation of the resulting transcript sequence revealed an insertion of 14 amino acids in-frame to the existing NDRG1 protein. This insertion is predicted to disrupt an alpha helix which is involved in protein-protein interactions in homologous proteins. Our study expands the clinical and genetic spectrum of CMT4D. The splice defect we found in this patient reveals a novel splice isoform of NDRG1 as the potential cause for the neuropathy observed in this patient. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
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  Data: <searchLink fieldCode="AR" term="%22Pravinbabu%2C+Pooja%22">Pravinbabu, Pooja</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Holla%2C+Vikram+V%2E%22">Holla, Vikram V.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Phulpagar%2C+Prashant%22">Phulpagar, Prashant</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kamble%2C+Nitish%22">Kamble, Nitish</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Netravathi%2C+Manjunath%22">Netravathi, Manjunath</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yadav%2C+Ravi%22">Yadav, Ravi</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Pal%2C+Pramod+Kumar%22">Pal, Pramod Kumar</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Muthusamy%2C+Babylakshmi%22">Muthusamy, Babylakshmi</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Jul2022, Vol. 43 Issue 7, p4463-4472. 10p. 1 Black and White Photograph, 1 Diagram, 1 Chart, 1 Graph.
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  Data: <searchLink fieldCode="DE" term="%22Charcot-Marie-Tooth+disease%22">Charcot-Marie-Tooth disease</searchLink><br /><searchLink fieldCode="DE" term="%22Motor+neuron+diseases%22">Motor neuron diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+variation%22">Genetic variation</searchLink><br /><searchLink fieldCode="DE" term="%22Muscle+weakness%22">Muscle weakness</searchLink><br /><searchLink fieldCode="DE" term="%22Hearing+disorders%22">Hearing disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Glycogen+storage+disease+type+II%22">Glycogen storage disease type II</searchLink>
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  Data: Charcot-Marie-Tooth disease, type 4D (CMT4D) is a progressive, autosomal recessive form of CMT, characterized by distal muscle weakness and atrophy, foot deformities, severe motor sensory neuropathy, and sensorineural hearing impairment. Mutations in NDRG1 gene cause neuropathy in humans, dogs, and rodents. Here, we describe clinical and genetic features of a 17-year-old male with wasting of hand muscle and foot and severe motor neuropathy. Whole exome sequencing was carried out on the patient and his unaffected parents. We identified a novel deletion of nine nucleotides (c.537 + 2_537 + 10del) on the splice donor site of intron 8 in NDRG1 gene. The Sanger sequencing confirmed the segregation of this mutation in autosomal recessive inheritance. Furthermore, transcript analysis confirmed a splice defect and reveals using of an alternate cryptic splice donor site on the downstream intronic region. It resulted in an insertion of 42 nucleotides to exon 8 of NDRG1. Translation of the resulting transcript sequence revealed an insertion of 14 amino acids in-frame to the existing NDRG1 protein. This insertion is predicted to disrupt an alpha helix which is involved in protein-protein interactions in homologous proteins. Our study expands the clinical and genetic spectrum of CMT4D. The splice defect we found in this patient reveals a novel splice isoform of NDRG1 as the potential cause for the neuropathy observed in this patient. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              Text: Jul2022
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