Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in <scp> <i>DCAF17</i> </scp> gene underlying <scp>Woodhouse‐Sakati</scp> syndrome.-Reference-Cited by-同舟云学术

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Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse‐Sakati syndrome.

Published:2022-07-25 Issue:10 Volume:34 Page:
ISSN:0953-8194
Container-title:Journal of Neuroendocrinology
language:en
Short-container-title:J Neuroendocrinology

Author:

Kumari Riyanka¹²^ORCID,Holla Vikram V.³^ORCID,Phulpagar Prashant¹²^ORCID,Sriram Neeharika³^ORCID,Hegde Aditya G.⁴,Vengalil Seena³^ORCID,Kamble Nitish³^ORCID,Saini Jitender⁵,Yadav Ravi³^ORCID,Pal Pramod Kumar³^ORCID,Muthusamy Babylakshmi¹²^ORCID

Affiliation:

1. Institute of Bioinformatics International Technology Park Bangalore India

2. Manipal Academy of Higher Education Manipal Karnataka India

3. Department of Neurology National Institute of Mental Health and Neurosciences (NIMHANS) Bangalore India

4. Department of Endocrinology Manipal Hospitals Bangalore India

5. Departement of Neuroimaging and Interventional Radiology National Institute of Mental Health and Neurosciences (NIMHANS) Bangalore India

Funder

Indian Council of Medical Research

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Endocrine and Autonomic Systems,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jne.13185

Reference27 articles.

1. Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

2. A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.

3. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature

4. Patterns of neurological manifestations in Woodhouse-Sakati Syndrome

5. Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene

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1. Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17;Journal of Human Genetics;2023-09-26

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