Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay populationReportar como inadecuado

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BMC Genetics

, 17:39

Human population genetics


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.

KeywordsNonsyndromic cleft lip palate Large families Microarray Genome-wide linkage analysis Candidate genes AbbreviationsCLcleft lip

CLPcleft lip and palate

COL21A1alpha chain of type XX1 collagen

CPcleft palate

FOXG1forkhead box G1

FOXP2forkhead box protein P2

HECTD1HECT domain containing E3 ubiquitin protein ligase 1

HLODheterogeneity LOD

HWEHardy-Weinberg equilibrium

LODlogarithm of the odds

LPHN2latrophilin 2, a G-protein-coupled receptor

NCBINational Center for Biotechnology Information

NPLnonparametric linkage

NSCLPnonsyndromic cleft lip with or without palate

PVRL3poliovirus receptor-related 3

SATB2special AT-rich sequence-binding protein 2

SUMO1small ubiquitin-like modifier 1

TOX3TOX high mobility group box family member 3

VWSVan der Woude syndrome

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Autor: Nurul Syazana Mohamad Shah - Iman Salahshourifar - Sarina Sulong - Wan Azman Wan Sulaiman - Ahmad Sukari Halim


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