rs3821949
This variant is located in the MSX1 gene.
▶Research that mentions this SNP (1)
▶The CRISPLD2 gene is involved in cleft lip and/or cleft palate in a Chinese populationReviewXi Shen et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology
This narrative review examines the genetics of cleft lip with or without cleft palate (CLP) and cleft palate only (CP), which affect approximately 1 in 700 to 1 in 2,000 births worldwide. The paper discusses over 300 genes implicated in palatal fusion, with recent discoveries including variants in VAX1, GLI2, ARHGAP29, CRISPLD2, COL21A1, TBX22, ROCK1, GRHL3, and HYAL2. Key rsID associations identified include rs3821949 (MSX1), rs12532 (MSX1), rs17563 (BMP4), rs4783099, rs1546124, and rs16974880. The review emphasizes the multifactorial etiology involving both genetic and environmental factors in embryonic facial development.
About MSX1
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]
View all MSX1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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