Hum. Genet. 47, 345--346 (1979) © by Springer-Verlag 1979
Autosomal Dominant Acrodysostosis J. M. Cantti*, A. Hernfindez, A. Panduro-Cerda, and Z. Nazarfi-Cazorla Divisi6n de Gen6tica y Hematologfa, Subjefatura de Investigaci6n B~isica, Unidad de Investigaci6n Biom6dica y Hospital de Especialidades, Centro M6dico de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, M6xico
Niikawa et al. (1978) have recently described two Japanese siblings affected with a syndrome of mental retardation, severe nasal hypoplasia, and peripheral dysostosis. Both had blue eyes, an unusual finding among Japanese people, which led the authors to postulate that the syndrome was something other than acrodysostosis. However, the mother was diagnosed as having a milder phenotypic form but with brown eyes. Since the eye color in the two sibs was the only parameter differentiating this syndrome from acrodysostosis, and since the color of the eyes is almost certainly a polygenic trait (McKusick, 1978), there seems to be insufficient evidence to justify the postulation of a distinct entity. The fact that the mother is mildly affected and without mental deficiency could be explained either by variable expressivity, most notable in stature (Robinow et al., 1971) and mental development (Panduro-Cerda et al., 1978), or by mixogenia (Cantti et al., 1973). Therefore, the family described by Niikawa et al. (1978) seems to provide evidence of the autosomal dominant pattern of inheritance in acrodysostosis, first suggested by Robinow et al. (1971), rather than to have features constituting a new syndrome. Jones et al. (1975) and Panduro-Cerda et al. (1978) found a significantly increased paternal age controled for maternal age in acrodysostosis, which supports the causal hypothesis of a de novo autosomal dominant mutation. In addition, there is no significant difference in paternal age in relation to the sex of affected offspring (33.7 years for males; 34.2 years for females), further substantiating an autosomal, rather than an X-linked, dominant mutation as the etiology of acrodysostosis.
References Cantd, J. M., Urrusti, J., Hernfindez, A., Del Castillo, V., Macotela-Ruiz, E.: Discordance for giant pigmented nevi in monozygotic twins. Ann. G6n6t. (Paris) 16,289--292 (1973) Jones, K. L., Smith, D. W., Sedwick-Harvey, M. A. S., Hall, B. D., Quan, L.: Older paternal age and fresh gene mutation: data on additional disorders. J. Pediatr. 86, 84--89 (1975) *
To whom offprint requests should be sent
0340-6717/79/0047/0345/$ 01.00
346
J.M. Cantfi et al.
McKusick, V. A.: Mendelian inheritance in man. Baltimore: Johns Hopkins 1978 Niikawa, N., Matsuda, I., Ohsawa, T., Kajii, T.: Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings. Hum. Genet. 42, 227--232 (1978) Panduro-Cerda, A., Nazar~i-Cazorla, Z., Martinez y Martinez, R., Hern~indez, A., Cantfi, J. M.: Acrodisostosis. Bol. Med. Hosp. Infant. Mex. (In press, 1978) Robinow, M., Pfeiffer, R. A., Gorlin, R. J., McKusick, V. A., Renuart, A. W., Johnson, G. F., Summitt, R. L.: Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am. J. Dis. Child. 121, 195--203 (1971)
Received November 27, 1978
Autosomal Dominant Acrodysostosis J. M. Cantti*, A. Hernfindez, A. Panduro-Cerda, and Z. Nazarfi-Cazorla Divisi6n de Gen6tica y Hematologfa, Subjefatura de Investigaci6n B~isica, Unidad de Investigaci6n Biom6dica y Hospital de Especialidades, Centro M6dico de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, M6xico
Niikawa et al. (1978) have recently described two Japanese siblings affected with a syndrome of mental retardation, severe nasal hypoplasia, and peripheral dysostosis. Both had blue eyes, an unusual finding among Japanese people, which led the authors to postulate that the syndrome was something other than acrodysostosis. However, the mother was diagnosed as having a milder phenotypic form but with brown eyes. Since the eye color in the two sibs was the only parameter differentiating this syndrome from acrodysostosis, and since the color of the eyes is almost certainly a polygenic trait (McKusick, 1978), there seems to be insufficient evidence to justify the postulation of a distinct entity. The fact that the mother is mildly affected and without mental deficiency could be explained either by variable expressivity, most notable in stature (Robinow et al., 1971) and mental development (Panduro-Cerda et al., 1978), or by mixogenia (Cantti et al., 1973). Therefore, the family described by Niikawa et al. (1978) seems to provide evidence of the autosomal dominant pattern of inheritance in acrodysostosis, first suggested by Robinow et al. (1971), rather than to have features constituting a new syndrome. Jones et al. (1975) and Panduro-Cerda et al. (1978) found a significantly increased paternal age controled for maternal age in acrodysostosis, which supports the causal hypothesis of a de novo autosomal dominant mutation. In addition, there is no significant difference in paternal age in relation to the sex of affected offspring (33.7 years for males; 34.2 years for females), further substantiating an autosomal, rather than an X-linked, dominant mutation as the etiology of acrodysostosis.
References Cantd, J. M., Urrusti, J., Hernfindez, A., Del Castillo, V., Macotela-Ruiz, E.: Discordance for giant pigmented nevi in monozygotic twins. Ann. G6n6t. (Paris) 16,289--292 (1973) Jones, K. L., Smith, D. W., Sedwick-Harvey, M. A. S., Hall, B. D., Quan, L.: Older paternal age and fresh gene mutation: data on additional disorders. J. Pediatr. 86, 84--89 (1975) *
To whom offprint requests should be sent
0340-6717/79/0047/0345/$ 01.00
346
J.M. Cantfi et al.
McKusick, V. A.: Mendelian inheritance in man. Baltimore: Johns Hopkins 1978 Niikawa, N., Matsuda, I., Ohsawa, T., Kajii, T.: Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings. Hum. Genet. 42, 227--232 (1978) Panduro-Cerda, A., Nazar~i-Cazorla, Z., Martinez y Martinez, R., Hern~indez, A., Cantfi, J. M.: Acrodisostosis. Bol. Med. Hosp. Infant. Mex. (In press, 1978) Robinow, M., Pfeiffer, R. A., Gorlin, R. J., McKusick, V. A., Renuart, A. W., Johnson, G. F., Summitt, R. L.: Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am. J. Dis. Child. 121, 195--203 (1971)
Received November 27, 1978
