Abstract
BackgroundNonsyndromic orofacial clefts are one of the most common birth defects worldwide. It occurs as a result of genetic or environmental factors. This study investigates the genetic contribution to nonsyndromic cleft lip and/or palate through the analysis of family pedigrees. Candidate genes associated with the condition were identified from large extended families from the Malay population.ResultsA significant nonparametric linkage (NPL) score was detected in family 100. Other suggestive NPL and logarithm of the odds (LOD) scores were attained from families 50, 58, 99 and 100 under autosomal recessive mode. Heterogeneity LOD (HLOD) score ≥ 1 was determined for all families, confirming genetic heterogeneity of the population and indicating that a proportion of families might be linked to each other. Several candidate genes in linkage intervals were determined; LPHN2 at 1p31, SATB2 at 2q33.1-q35, PVRL3 at 3q13.3, COL21A1 at 6p12.1, FOXP2 at 7q22.3-q33, FOXG1 and HECTD1 at 14q12 and TOX3 at 16q12.1.ConclusionsWe have identified several novel and known candidate genes for nonsyndromic cleft lip and/or palate through genome-wide linkage analysis. Further analysis of the involvement of these genes in the condition will shed light on the disease mechanism. Comprehensive genetic testing of the candidate genes is warranted.
Highlights
Nonsyndromic orofacial clefts are one of the most common birth defects worldwide
Orofacial clefts are one of the most common human congenital disorder reported in Western countries and second most common birth defects among newborn [1, 2]
Inclusion and exclusion criteria All families either having cleft lip (CL), cleft lip and palate (CLP) or cleft palate (CP) were all included in this study
Summary
Nonsyndromic orofacial clefts are one of the most common birth defects worldwide. It occurs as a result of genetic or environmental factors. This study investigates the genetic contribution to nonsyndromic cleft lip and/or palate through the analysis of family pedigrees. Orofacial clefts are congenital malformation that comprises of a large fraction of human birth defects that affects the lip and/or palate. Orofacial clefts are one of the most common human congenital disorder reported in Western countries and second most common birth defects among newborn [1, 2]. It arises approximately 1 per 500 to 1000 live births with ethnic and geographic variation [1, 3]. It was reported that the highest incidence of clefts was among Chinese with 1.9 per 1000 deliveries while the Malays had the lowest incidence with 0.98 per 1000 deliveries [6]
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