Fluctuating dermatoglyphic asymmetry and familial recurrence of cleft lip/palate in a high-prevalence cluster of South America.

J.S. LOPEZ CAMELO; A.R. VIEIRA; E.E. CASTILLA; J. RATOWIECKI; C.A. BRANDON; I.M. ORIOLI; F.M. CARVALHO; M.L. MARAZITA; F.A. POLETTA

Orlando

Congreso; American Society of Human Genetics 67 Annual Meeting; 2017

American Society of Human Genetics

Non-syndromic orofacial clefts, notably cleft lip with or without palate (CL/P), are common congenital anomalies with complex and heterogeneous etiology. A high prevalence of CL/P was previously identified in the Argentine Patagonia, probably associated with Amerindian ancestry and low socioeconomic status.While it is known that there is a relationship between abnormal dermatoglyphics and birth defects, there are relatively few studies investigating dermatoglyphic asymmetry and familial risk of CL/P, and as far as we know, this is the first report in South America populations. The aim of this study was to compare levels of fluctuating dermatoglyphic asymmetry among non-syndromic CL/P probands with different degrees of family recurrence, versus unrelated controls, from a high-CL/P-prevalence cluster in South America.The sample included 168 individuals (84 CL/P cases and 84 unrelated controls) ascertained by ECLAMC (The Latin-American Collaborative Study of Congenital Malformations) hospitals in Patagonia. Dissimilarity score of fingerprint patterns was used as an indicator of bilateral fluctuating asymmetry. For each CL/P case we calculated the family history score (FHS) from pedigree data, using the observed risk in first-degree relatives, and the expected frequency according to family size and population risk prevalence. Individuals were then distributed in 3 groups: (1) Unrelated controls (without family history of CL/P), (2) CL/P cases with low FHS, and (3) CL/P cases with high FHS. Means and standard deviations were calculated for each FHS group and sex. Differences among groups were analyzed with two-way ANOVA including FHS group, sex, and an interaction term (FHS group*sex). We observed statistically significant differences between FHS groups (p = 0.025) with a higher asymmetry in cases with higher FHS; but not between sexes, nor evidence of interaction FHS group*sex.Our results suggests that higher FHS (higher genetic load of susceptibility) could influence the developmental instability in CL/P cases. Bilateral asymmetry in dermatoglyphic patterns could be a good phenotypic indicator to identify families where the developmental instability is playing a role in the causal model of CL/P, and therefore to obtain more homogenous groups of cases for linkage/association studies conducted to identify major genes for CL/P.PICT-2016-3869