A new missense mutation in the CASR gene in familial interstitial lung disease with hypocalciuric hypercalcemia and defective granulocyte function

American Journal of Respiratory and Critical Care Medicine

Volumn 177, Issue 5, 2008, Pages 558-559

  Demedts, Maurits ^a   Lissens, Willy ^b   Wuyts, Wim ^a   Matthijs, Gert ^a   Thomeer, Michiel ^a   Bouillon, Roger ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CALCIUM; CALCIUM SENSING RECEPTOR;

CELL AGGREGATION; DNA SEQUENCE; FAMILIAL DISEASE; GENE AMPLIFICATION; GENE MUTATION; GENETIC DIFFERENCE; GENETIC VARIABILITY; GRANULOCYTE; HUMAN; HYPERCALCEMIA; INTERSTITIAL LUNG DISEASE; INTERSTITIAL PNEUMONIA; LETTER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; GENETICS; MISSENSE MUTATION; NOTE; PHYSIOLOGY; URINE;

CALCIUM; GRANULOCYTES; HUMANS; HYPERCALCEMIA; LUNG DISEASES, INTERSTITIAL; MUTATION, MISSENSE; RECEPTORS, CALCIUM-SENSING;

EID: 40649129499     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/ajrccm.177.5.558     Document Type: Letter

References (5)

1. Yang IV, Burch LH, Steele MP, Savov JD, Hollingsworth JW, McElvania-Tekippe E, Berman KG, Speer MC, Sporn TA, Brown KK, et al. Gene expression profiling of familial and sporadic interstitial pneumonia. Am J Respir Crit Care Med 2007;175:45-54.
2. Demedts M, Auwerx J, Goddeeris P, Bouillon R, Gyselen A, Lauweryns J. The inherited association of interstitial lung disease, hypocalciuric hypercalcemia, and defective granulocyte function. Am Rev Respir Dis 1985;131:470-475.
3. Auwerx J, Demedts M, Bouillon R, Desmet J. Coexistence of hypocalciuric hypercalcemia and interstitial lung disease in a family: a cross-sectional study. Eur J Clin Invest 1985;15:6-14.
4. Marx SJ, Spiegel AM, Levine MA, Rizzoli RE, Lasker RD, Santora AC, Downs RW Jr, Aurbach GD. Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia. N Engl J Med 1982;307:416-426.
5. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al. Calcium sensing receptor mutations in familial benign hypercalcemia and neonatal hyperthyroidism. J Clin Invest 1995;96:2683-2692.