REPLY
Autosomal/Recessive Hypocalciuric Hypercalcemia
H.J. Van Peenen
15 May 1997 | Volume 126 Issue 10 | Page 835
IN RESPONSE:
Dr. Dunn is, of course, correct. In the poem, I am indeed referring to a child inheriting a dominant gene from each parent. Familial hypocalciuric hypercalcemia (FHH) is normally a very mild condition that is dominant with variable penetrance. There are multiple defective alleles. Most people with mild forms of the disease are asymptomatic and undiagnosed, hence the reference in the poem to random matings.
The poem was inspired by the recent discovery that severe neonatal hypoparathyroidism is an extreme example of FHH, caused by a double dose of mutations at the human calcium-ion sensing receptor gene [1]. There is an increased incidence of this often fatal neonatal form in families with FHH and fetal wastage.
I am a little impatient with standard Mendelian ideas of dominance and recessiveness because either may look like the other when we cannot study huge kindreds that go back several generations. Until recently, severe neonatal hyperparathyroidism was thought to be a recessive trait. The slash in the poem's title was meant to convey this ambiguity. Perhaps a question mark would have been better.
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Author and Article Information
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Salem, OR 97302
1. Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, Brandi ML, et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest. 1994; 93:1108-12.
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