Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia.
| Autor: | Willows J; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK., Al Badi M; National Diabetes and Endocrine Center, Royal Hospital, Ministry of Health, Muscat, Oman., Richardson C; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK., Al Sinani A; National Diabetes and Endocrine Center, Royal Hospital, Ministry of Health, Muscat, Oman., Edwards N; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK., Rice S; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK., Sayer JA; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK. |
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| Jazyk: | angličtina |
| Zdroj: | F1000Research [F1000Res] 2019 May 15; Vol. 8, pp. 666. Date of Electronic Publication: 2019 May 15 (Print Publication: 2019). |
| DOI: | 10.12688/f1000research.19006.2 |
| Abstrakt: | Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised. Affected patients can present with severe symptoms of hypomagnesaemia, such as seizures or cardiac arrhythmia. We report an affected child, from a consanguineous family, who presented in the first weeks of life with seizures secondary to hypomagnesaemia, without other associated clinical features. We performed whole exome sequencing in the affected child and segregation analysis within the family, which revealed a novel homozygous missense mutation in TRPM6 , which was confirmed as a heterozygous allele in both parents and two younger siblings who had transient hypomagnesaemia. Using in silico modelling, we provide evidence that the missense variant p.(K1098E) in TRPM6 is pathogenic, as it disrupts stabilising TRP domain interactions. Management of familial hypomagnesaemia relies on prompt recognition, early magnesium replacement and lifelong monitoring. Competing Interests: No competing interests were disclosed. (Copyright: © 2019 Willows J et al.) |
| Databáze: | MEDLINE |
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