Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.
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| Title: | Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family. |
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| Authors: | Li, Fucheng (AUTHOR), Li, Ru (AUTHOR), Zhang, Yongling (AUTHOR), Jing, Xiangyi (AUTHOR), Liao, Can (AUTHOR) |
| Source: | Neurological Sciences. Apr2023, Vol. 44 Issue 4, p1451-1453. 3p. 1 Diagram. |
| Subjects: | Gene families, Mosaicism, Germ cells, Movement disorders, Genetic mutation, Von Hippel-Lindau disease, Hemiplegia |
| Abstract: | The variant c.2974G > T (p.Asp992Tyr) of I ATP1A3 i has been reported in a 2-year-old patient with isolated infantile onset hemiplegic attacks [[1]], but our patient exhibited classical AHC phenotype at the same age, illustrating the phenotypic variability associated with I ATP1A3 i variants. The identification of I ATP1A3 i variant in conjunction with the clinical characteristics of the proband validated the diagnosis of AHC, which is helpful for the proper management of the patient [[3]]. Alternating hemiplegia of childhood (AHC) (OMIM: 614820), one phenotype of I ATP1A3 i -related disorder, is a rare autosomal dominant neurologic disease characterized by hemiplegia, abnormal eye movement, and paroxysmal dystonia feature, all of which occur in attacks beginning in infancy or early childhood and lasting for minutes to weeks. [Extracted from the article] |
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| Database: | Psychology and Behavioral Sciences Collection |
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| Abstract: | The variant c.2974G > T (p.Asp992Tyr) of I ATP1A3 i has been reported in a 2-year-old patient with isolated infantile onset hemiplegic attacks [[1]], but our patient exhibited classical AHC phenotype at the same age, illustrating the phenotypic variability associated with I ATP1A3 i variants. The identification of I ATP1A3 i variant in conjunction with the clinical characteristics of the proband validated the diagnosis of AHC, which is helpful for the proper management of the patient [[3]]. Alternating hemiplegia of childhood (AHC) (OMIM: 614820), one phenotype of I ATP1A3 i -related disorder, is a rare autosomal dominant neurologic disease characterized by hemiplegia, abnormal eye movement, and paroxysmal dystonia feature, all of which occur in attacks beginning in infancy or early childhood and lasting for minutes to weeks. [Extracted from the article] |
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| ISSN: | 15901874 |
| DOI: | 10.1007/s10072-022-06535-5 |
