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Assessment of whole-exome sequencing results in neurogenetic diseases

Journal of Human Genetics volume 68, pages 797–804 (2023)Cite this article

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Abstract

Neurogenetic diseases are rare genetic diseases in which neurological findings are prominent. Whole exome sequencing (WES) has led to great advances in the understanding of the causes of neurogenetic diseases. Etiological research ends with the WES method in many patients. This etiological research is called a "diagnostic odyssey” for many families. Here, we present the results of 168 patients who were previously undiagnosed and underwent WES with the suspicion of neurogenetic disease. A total of 168 cases, 94 males and 74 females, with suspected undiagnosed neurogenetic disease were included in the study. We presented the WES results of the patients. The mean age of patients at the time of WES request was 11 years (range 0.25–68 years). Seventy percent (n = 117) of the patients were born from consanguineous marriage. Most of the patients were children (n = 145). Patients were grouped according to age at the time of examination. Patients younger than 18 years of age at the time of examination were classified as children, otherwise adults. Seventy-eight patients had either a pathogenic variant or a likely pathogenic variant so the diagnostic rate for WES in our cohort was %46. Our experience showing the high diagnostic rate of WES, supports its use in undiagnosed neurogenetic diseases. It also affects medical treatment, prognosis and family planning by enabling early diagnosis in patients.

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Acknowledgements

The authors thank Dr. Hatice KOÇAK EKER, for her support in data collection.

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  1. Department of Medical Genetics, Konya City Hospital, Konya, Turkey

    Özgür Balasar & Müşerref Başdemirci

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  1. Özgür Balasar
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  2. Müşerref Başdemirci
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Contributions

OB: Conception, design, project administration, data collection, analyses and interpretation, literature review, writing, review and editing. MB: Supervision, data collection, analyses and interpretation, review and editing.

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Correspondence to Özgür Balasar or Müşerref Başdemirci.

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Balasar, Ö., Başdemirci, M. Assessment of whole-exome sequencing results in neurogenetic diseases. J Hum Genet 68, 797–804 (2023). https://doi.org/10.1038/s10038-023-01185-7

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