A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family

摘要: Background: Frontonasal dysplasia (FND) is a rare developmental disorder characterized by mild to severe changes in skull and brain structures. It phenotypically variable heterogeneous disorder. This study was designed provide clinical genetic analysis of FND consanguineous family Pakistani origin. Methodology Results: Affected individuals the showed characteristic features frontonasal type-2 (FND2), such as nasal bone hypoplasia, hypertelorism, alopecia. Skull imaging affected members revealed ossification defects various types structural anomalies that created split-brain. Sanger sequencing ALX4 gene homozygous missense variant [NM_021926.4: c.652C>T; p.(Arg218Trp)] three who demonstrated craniofacial anomalies. Heterozygous carriers FND2 phenotypes. Conclusion: Clinical family, exhibiting phenotypes, several previously unreported novel gene. These results will facilitate diagnosis counseling patients population.