Primary Hypomagnesaemia, an X-Borne Allele?

Teebi, A. S.

doi:10.1016/s0140-6736(83)91986-4

Cited by 12 publications

(8 citation statements)

References 8 publications

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“…In 1997, Walder et al established the existence of a linkage for this disease with a region within chromosome 9q flanked by the markers D9S1115 and DS175 [18] after Hennekam and Donckerwolcke [7] had suggested a recessive inheritance taking into account the frequency of consanguineous parents among children affected by HSH. Nevertheless, X-linked inheritance had also been suggested by some authors considering the male preponderance among reported cases of the disease [5,17]. Within the critical region on chromosome 9, in 2002, two independent groups described the identification of mutations in TRPM6, a member of the transient receptor potential (TRP) ion channel family, as the underlying cause of HSH [12,19].…”

Section: Discussionmentioning

confidence: 99%

Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation

2008

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Hypomagnesaemia with secondary hypocalcaemia (HSH) is a rare condition usually presenting in the newborn period as refractory seizures, other symptoms of increased neuromuscular excitability and growth disturbances. A case with a novel TRPM6 mutation with an excellent long-term outcome is reported to highlight the observation that clinical suspicion is essential for an early diagnosis and treatment of HSH. The compliance of a long-term treatment with oral magnesium supplements is critical to avoid abnormalities of neurological and physical development. The finding of novel mutations supports the notion that the molecular study of the whole TRPM6 gene is required for diagnostic accuracy. Furthermore, the molecular study of the different types of hereditary hypomagnesaemia is critical to further improve our knowledge of magnesium homeostasis.

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Section: Discussionmentioning

confidence: 99%

Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation

2008

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“…[1,2] in 1965, is not fully understood. An initial preponderance of afflicted males suggested an X‐linked recessive disorder [3], and the description of an afflicted female with balanced translocation involving the X chromosome, t (X: 9) (p22: q12), lent support to this notion [4]. However, subsequent identification of several affected females has suggested an autosomal recessive inheritance [5].…”

Section: Unexpected Toxicity Induced By Magnesium Orotate Treatment Imentioning

confidence: 99%

Letter to the Editor

Guillard

Piriou

Fauconneau

et al. 2002

Journal of Internal Medicine

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“…The preponderance of reported male patients, and the X;9 translocation female patient with HSH, favoured Xchromosomal recessive inheritance. 4,5 The linkage study by…”

Section: Introductionmentioning

confidence: 99%

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

Jalkanen¹,

Pronicka²,

Tyynismaa³

et al. 2005

Eur J Hum Genet

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Hypomagnesemia with secondary hypocalcemia (HSH) is a rare inherited disease, characterised by neurological symptoms, such as tetany, muscle spasms and seizures, due to hypocalcemia. It has been suggested that HSH is genetically heterogeneous, but only one causative gene, TRPM6, on chromosome 9 has so far been isolated. We have now studied the genetic background of HSH in four Polish patients belonging to three families, and a HSH patient carrying an apparently balanced X;9 translocation. The translocation patient has long been considered as an example of the X-linked form of HSH. We identified six TRPM6 gene mutations, of which five were novel, in the Polish patients. All the alterations were either nonsense/splicing or missense mutations. The clinical picture of the patients was similar to the HSH patients reported earlier. No genotype -phenotype correlation could be detected. Sequencing did not reveal any TRPM6 or TRPM7 gene mutations in the female HSH patient with an X;9 translocation. Isolation of the translocation breakpoint showed that the chromosome 9 specific breakpoint mapped within satellite III repeat sequence. The X-chromosomal breakpoint was localised to the first intron of the vascular endothelial growth factor gene, VEGFD. No other sequence alterations were observed within the VEGFD gene. Even though the VEGFD gene was interrupted by the X;9 translocation, it seems unlikely that VEGFD is causing the translocation patient's HSH-like phenotype. Furthermore, re-evaluation of patient's clinical symptoms suggests that she did not have a typical HSH.

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Primary Hypomagnesaemia, an X-Borne Allele?

Cited by 12 publications

References 8 publications

Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation

Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation

Letter to the Editor

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

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