Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications

Lucia Gagliardi; Morton G. Burt; Jinghua Feng; Nicola K. Poplawski; Hamish S. Scott

doi:10.1111/cen.13104

Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications

Lucia Gagliardi, Morton G. Burt, Jinghua Feng, Nicola K. Poplawski, Hamish S. Scott

Research output: Contribution to journal › Letter › peer-review

2 Citations (Scopus)

Abstract

We report a patient from a family with autosomal dominant hypocalcaemia who also had prednisolone‐treated Langerhans’ cell histiocytosis and familial genetic studies identifying a novel calcium‐sensing receptor (CASR ) mutation. We describe an approach to define pathogenicity of a genetic variation of uncertain significance and postulate that bisphosphonates may have paradoxically increased fracture risk in our patient.

Original language	English
Pages (from-to)	495-497
Number of pages	3
Journal	Clinical Endocrinology
Volume	85
Issue number	3
DOIs	https://doi.org/10.1111/cen.13104
Publication status	Published - Sept 2016

Keywords

genetic implications
clinical implications
clinical and genetic implications
Autosomal dominant hypocalcaemia
novel CASR mutation

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abstract = "We report a patient from a family with autosomal dominant hypocalcaemia who also had prednisolone‐treated Langerhans{\textquoteright} cell histiocytosis and familial genetic studies identifying a novel calcium‐sensing receptor (CASR ) mutation. We describe an approach to define pathogenicity of a genetic variation of uncertain significance and postulate that bisphosphonates may have paradoxically increased fracture risk in our patient. ",

keywords = "genetic implications, clinical implications, clinical and genetic implications, Autosomal dominant hypocalcaemia, novel CASR mutation",

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T2 - clinical and genetic implications

AU - Gagliardi, Lucia

AU - Burt, Morton G.

AU - Feng, Jinghua

AU - Poplawski, Nicola K.

AU - Scott, Hamish S.

PY - 2016/9

Y1 - 2016/9

N2 - We report a patient from a family with autosomal dominant hypocalcaemia who also had prednisolone‐treated Langerhans’ cell histiocytosis and familial genetic studies identifying a novel calcium‐sensing receptor (CASR ) mutation. We describe an approach to define pathogenicity of a genetic variation of uncertain significance and postulate that bisphosphonates may have paradoxically increased fracture risk in our patient.

AB - We report a patient from a family with autosomal dominant hypocalcaemia who also had prednisolone‐treated Langerhans’ cell histiocytosis and familial genetic studies identifying a novel calcium‐sensing receptor (CASR ) mutation. We describe an approach to define pathogenicity of a genetic variation of uncertain significance and postulate that bisphosphonates may have paradoxically increased fracture risk in our patient.

KW - genetic implications

KW - clinical implications

KW - clinical and genetic implications

KW - Autosomal dominant hypocalcaemia

KW - novel CASR mutation

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UR - http://purl.org/au-research/grants/NHMRC/1023059

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DO - 10.1111/cen.13104

M3 - Letter

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SP - 495

EP - 497

JO - Clinical Endocrinology

JF - Clinical Endocrinology

IS - 3

ER -

Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications

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Keywords

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