Molecular Diagnosis of Pseudohypoparathyroidism Type Ib in a Family With Presumed Paroxysmal Dyskinesia-Reference-Cited by-同舟云学术

Molecular Diagnosis of Pseudohypoparathyroidism Type Ib in a Family With Presumed Paroxysmal Dyskinesia

Published:2005-02-01 Issue:2 Volume:115 Page:e242-e244
ISSN:0031-4005
Container-title:Pediatrics
language:en
Short-container-title:

Author:

Mahmud Farid H.¹,Linglart Agnès²,Bastepe Murat²,Jüppner Harald²,Lteif Aida N.¹

Affiliation:

1. Department of Pediatric Endocrinology and Metabolism, Mayo Clinic, Rochester, Minnesota

2. Endocrine and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts

Abstract

We describe 2 sisters diagnosed initially with paroxysmal kinesigenic choreoathetosis, a condition characterized by brief episodes of spasms precipitated by sudden movement. However, subsequent testing showed hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone levels consistent with pseudohypoparathyroidism type Ib. This diagnosis was confirmed by genetic testing, which identified a 3-kilobase deletion on chromosome 20q13.3. Our report describes the neurologic presentation, metabolic derangement, and underlying genetic mutation in a family. It also reinforces the importance of metabolic testing in the evaluation of pediatric patients with movement disorders.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology and Child Health

Link

https://publications.aap.org/pediatrics/article-pdf/115/2/e242/1005577/zpe0020500e242.pdf

Reference15 articles.

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2. Levine MA. Pseudohypoparathyroidism. In: Bilzekian JP, Raiz LG, Rodan GA, eds. Principles of Bone Biology. New York, NY: Academic Press; 2002:1137–1163

3. Neves SR, Ram PT, Iyengar R. G protein pathways. Science. 2002;296:1636–1639

4. Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev. 2001;22:675–705

5. Bastepe M, Pincus JE, Sugimoto T, et al. Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. Hum Mol Genet. 2001;10:1231–1241

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