Tags

Type your tag names separated by a space and hit enter

Genetic analysis in families with van der Woude syndrome.
J Craniofac Genet Dev Biol. 1985; 5(2):181-208.JC

Abstract

We have brought together information on 864 affected individuals in 164 families (including three new pedigrees) reported in the 137 year period since 1845 when Demarquay first described a family with what was later called van der Woude syndrome (VWS). Both types of oral cleft, cleft palate (CP) and cleft lip with or without CP (CLP), segregate in these families together with lower lip pits or fistulae in an autosomal dominant mode with high penetrance estimated to be K = .89 and .99 by different methods. Cleft types (CLP and CP) occur in VWS in the same proportions as in the general non-VWS population, ie, about twice as many cleft-bearing individuals have CLP as have CP. On the other hand, we do not find the usually observed excess of females with CP and excess of males with CLP; in VWS the sex ratios are more nearly equal. Lip pits also are equally distributed between the sexes. Affected males and females are equally likely to transmit VWS. However, there is an excess of less severely affected individuals among transmitters and a deficiency of more severely affected, brought about by a proband bias and differential fecundity. The expression of VWS is significantly modified by the genetic background: More extreme phenotypes in parents tend to produce more extreme expression in their children. For a VWS gene carrier the relative risk of transmitting a cleft is 26.45%; that of transmitting lower lip pits is 23.55%. Three pedigrees of lip pits in the literature show no clefts among a significant number of affected individuals. Control of gene expression in VWS in the three target tissues appears to be independent and separately designated. Mutation rate of the VWS gene is calculated to be 1.8 X 10(-5).

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

4019732

Citation

Burdick, A B., et al. "Genetic Analysis in Families With Van Der Woude Syndrome." Journal of Craniofacial Genetics and Developmental Biology, vol. 5, no. 2, 1985, pp. 181-208.
Burdick AB, Bixler D, Puckett CL. Genetic analysis in families with van der Woude syndrome. J Craniofac Genet Dev Biol. 1985;5(2):181-208.
Burdick, A. B., Bixler, D., & Puckett, C. L. (1985). Genetic analysis in families with van der Woude syndrome. Journal of Craniofacial Genetics and Developmental Biology, 5(2), 181-208.
Burdick AB, Bixler D, Puckett CL. Genetic Analysis in Families With Van Der Woude Syndrome. J Craniofac Genet Dev Biol. 1985;5(2):181-208. PubMed PMID: 4019732.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic analysis in families with van der Woude syndrome. AU - Burdick,A B, AU - Bixler,D, AU - Puckett,C L, PY - 1985/1/1/pubmed PY - 1985/1/1/medline PY - 1985/1/1/entrez SP - 181 EP - 208 JF - Journal of craniofacial genetics and developmental biology JO - J. Craniofac. Genet. Dev. Biol. VL - 5 IS - 2 N2 - We have brought together information on 864 affected individuals in 164 families (including three new pedigrees) reported in the 137 year period since 1845 when Demarquay first described a family with what was later called van der Woude syndrome (VWS). Both types of oral cleft, cleft palate (CP) and cleft lip with or without CP (CLP), segregate in these families together with lower lip pits or fistulae in an autosomal dominant mode with high penetrance estimated to be K = .89 and .99 by different methods. Cleft types (CLP and CP) occur in VWS in the same proportions as in the general non-VWS population, ie, about twice as many cleft-bearing individuals have CLP as have CP. On the other hand, we do not find the usually observed excess of females with CP and excess of males with CLP; in VWS the sex ratios are more nearly equal. Lip pits also are equally distributed between the sexes. Affected males and females are equally likely to transmit VWS. However, there is an excess of less severely affected individuals among transmitters and a deficiency of more severely affected, brought about by a proband bias and differential fecundity. The expression of VWS is significantly modified by the genetic background: More extreme phenotypes in parents tend to produce more extreme expression in their children. For a VWS gene carrier the relative risk of transmitting a cleft is 26.45%; that of transmitting lower lip pits is 23.55%. Three pedigrees of lip pits in the literature show no clefts among a significant number of affected individuals. Control of gene expression in VWS in the three target tissues appears to be independent and separately designated. Mutation rate of the VWS gene is calculated to be 1.8 X 10(-5). SN - 0270-4145 UR - https://www.unboundmedicine.com/medline/citation/4019732/Genetic_analysis_in_families_with_van_der_Woude_syndrome_ L2 - http://www.diseaseinfosearch.org/result/7346 DB - PRIME DP - Unbound Medicine ER -