The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension.
Open accessAbstract
The genetic basis of familial primary pulmonary hypertension (FPPH) is unknown, but the clinical and pathologic features are the same as in sporadically occurring primary pulmonary hypertension (PPH). Because few families with this disease have been reported, the mode of inheritance and genetic features have not been clearly established. We previously reported a tendency for decreasing age of onset in subsequent generations of affected families. The purpose of this study was to examine the pattern of inheritance in a large number of families in an attempt to find clues to pathogenesis. From 24 families we studied 429 members, 124 of whom were known to carry the gene for disease. We constructed cumulative mortality curves for each gender of the 99 affected individuals. We analyzed gender ratios of progeny of affected members and carriers and compared age at death of affected members by generation. More females (160) than males (122) were born to persons carrying the gene, p < 0.01, suggesting selective wastage of male fetuses or an abnormal primary sex ratio. Genetic anticipation was confirmed; the age at death was 45.6 +/- 14.5 versus 36.3 +/- 12.6 versus 24.2 +/- 11 standard deviation (SD) years in successive generations, p < 0.05. Five cases of male-to-male transmission were observed, excluding X-linkage. Age at death was the same for males and females. More females had the gene (84 females, 40 males) and more females with the gene developed disease (72 of 84 females [86%] versus 27 of 40 males [68%]). The disease has highly variable penetrance among families.(ABSTRACT TRUNCATED AT 250 WORDS)
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Primary Pulmonary Hypertension: A National Prospective Study
RICH, S., DANTZKER, D. R., AYRES, S. M., BERGOFSKY, E. H., BRUNDAGE, B. H., DETRE, K. M., FISHMAN, A. P., GOLDRING, R. M., GROVES, B. M., KOERNER, S. K., et al. (1987) · Annals of Internal Medicine · doi:10.7326/0003-4819-107-2-216 · Cited by 2,039
Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene
Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., Jansen, G., Neville, C., Narang, M., Barceló, J., O'Hoy, K., et al. (1992) · Science · doi:10.1126/science.1546325 · Cited by 1,660
An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy
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Cited by
Inflammation and immunity in the pathogenesis of pulmonary arterial hypertension
Rabinovitch, M., Guignabert, C., Humbert, M., & Nicolls, M. R. (2014) · Circulation Research · doi:10.1161/circresaha.113.301141 · Cited by 1,029
Sex differences and sex steroids in lung health and disease
Townsend, E. A., Miller, V. M., & Prakash, Y. S. (2012) · Endocrine Reviews · doi:10.1210/er.2010-0031 · Cited by 395
Metadata
- Authors
- Loyd, J. E., Butler, M. G., Foroud, T. M., Conneally, P. M., Phillips, J. A., & Newman, J. H.
- Venue
- American Journal of Respiratory and Critical Care Medicine
- Publisher
- Oxford University Press (OUP)
- Published
- 1995-07
- Volume
- 152
- Issue
- 1
- Pages
- 93-97
- ISSN
- 1073-449X (ISSN-L)
- 1535-4970
- OpenAlex
- W1996915488
- Cited by
- 254
- References
- 8
- FWCI
- 3.78
- Type
- journal article
- Language
- en
- Open access
- green
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- Loyd, J. E., Butler, M. G., Foroud, T. M., Conneally, P. M., Phillips, J. A., & Newman, J. H. (1995). Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. American Journal of Respiratory and Critical Care Medicine. https://doi.org/10.1164/ajrccm.152.1.7599869
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