XIX Chronic Hereditary Nephritis with Nerve Deafness

Patton, Richard B.

doi:10.1177/000348947007900119

Cited by 7 publications

(3 citation statements)

References 17 publications

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“…The present paper re-examines the various hypotheses proposed to explain the segregation ratio distortions in Alport's disease, using data from a larger French-Canadian kindred (Pashayan et al 1971) and reports from the literature (Alport 1927, Arnott et al 1966, Boucher & Paquelin 1956, Bourguet et al 1966, Chappell & Kelsey 1960, Chiricosta et al 1970, Cohen et al 1961, Felts 1970, Goldman et al 1957, Grace et al 1970, Mulrow et al 1962, Opitz 1962, Patton 1970, Perkoff et al 1951, Purriel et a1.1970, Reyershach & Butler 1954, Schafer et al 1962, Schneider 1963, Shaw & Glovcr 1961, Whalen et al 1961, Williamson 1961.…”

mentioning

confidence: 99%

Genetics of hereditary nephropathy with deafness (Alport's disease)

Preus

Fraser

1971

Clinical Genetics

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The inheritance of Alport's disease, hereditary nephropathy with deafness, has been re–examined using data from a large French–Canadian kindred and reports from the literature. Sibships in wliich a parent and grandparent were known to carry the gene were used to test for partial sex–linkage. A decrease, rather than the expected increase, in affected sons of affected males with an affected father makes this hypothesis untenable. No matter which grandparent was affected, mothers with the gene had equal numbers of affected and unaffected offspring of both sexes, as expected for autosomal dominant inheritance; fathers with the gene had a decrease from the expected proportion of affected sons and an increase in unaffected sons with no distortion of the sex ratio. The hypotheses of preferential segregation and of a sex–linked dominant modifier gene have likewise been discredited. The findings fit the expectation for autosomal dominant inheritance, with reduced penetrance in the sons of affected fathers; it is suggested that the unfavourable intrauterine milieu of the affected mother increases the penetrance of the gene in her sons to that in her daughters. This is supported by a lower frequency of affected offspring from asymptomatic than from symptomatic carrier mothers. The puzzle remains as to why there is a more serious disease, yet reduced penetrance in the males. Figures appropriate for genetic counselling are provided.

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confidence: 99%

Genetics of hereditary nephropathy with deafness (Alport's disease)

Preus

Fraser

1971

Clinical Genetics

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“…Patton (1970) noted that over 60 families with the disease had been reported by 1966. These families were reported from various countries including France, Germany, Switzerland, England, Canada, and the United States.…”

Section: Materials Methods and Criteria Of Classificationmentioning

confidence: 99%

Segregation Ratios in Alport's Syndrome

MacNeill

Shaw

1973

Journal of Medical Genetics

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“…Interest has been centred mainly on the genetic factors [e.g. Shaw and Glover, 1961;Patton, 1970;Slugg and Humphrey, 1970;N0rrelund, 1971] and the renal pathology [Krickstein et al, 1966;Berard and Morand, 1967;Castleman and McNeely, 1968], whereas histological studies of temporal bones have been sporadic and the materials small.…”

Section: Historicalmentioning

confidence: 99%