rs104893886

This is a variant in the FGF10 gene that changes a isoleucine to an arginine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Lacrimoauriculodentodigital syndrome 3 (LADD3)

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Research that mentions this SNP (2)

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Exploring the interaction between FGF Genes and T‐box genes among chinese nonsyndromic cleft lip with or without cleft palate case‐parent trios
ReviewWenyong Li et al.(2019)· Environmental and Molecular Mutagenesis

This systematic review examines FGF10 (fibroblast growth factor 10) pathogenic variants and their phenotypic effects across multiple organ systems, spanning from rare developmental disorders (lacrimal/salivary gland aplasia, lethal lung dysplasia) to common complex traits including chronic obstructive pulmonary disease, myopia, cleft lip/palate, and various cancers. The paper integrates functional data on FGF10 as an FGFR2b-specific ligand with a comprehensive catalog of reported variants and their clinical associations across human and animal studies.

Traits studied:Acinar dysplasiaAnorectal malformationAplasia of lacrimal and salivary glands (ALSG)Breast cancerBronchopulmonary dysplasia (BPD)Chronic obstructive pulmonary disease (COPD)Congenital alveolar dysplasiaCongenital heart diseaseConotruncal defectsExtreme myopiaGastric cancerHigh myopiaLacrimo-auriculo-dento-digital syndrome (LADD)Lethal lung developmental disordersMyopiaNonsyndromic cleft lip/palate (NSCL/P)Pancreatic cancerPrimary pulmonary hypoplasia
PubMedDOIMetascience Observatory
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Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population
ReviewAdrianna Mostowska et al.(2010)· Birth Defects Research Part A: Clinical and Molecular Teratology

This systematic review synthesizes current knowledge on FGF10-related disorders, covering the molecular mechanisms, tissue-specific expression patterns, and phenotypic spectrum of FGF10 abnormalities in humans. Key findings include that pathogenic variants in FGF10 cause congenital disorders (lacrimo-auriculo-dento-digital syndrome, aplasia of lacrimal and salivary glands, lethal lung developmental disorders) and that common SNPs in FGF10 are associated with increased risk of COPD (rs2973644, rs1011814, rs980510, rs10512844, rs10473352), myopia (rs339501, rs12517396), breast cancer (rs10941679), and cleft lip/palate (rs10462065).

Traits studied:Acinar dysplasia (AcDys)Anorectal malformation (ARM)Aplasia of the lacrimal and salivary glands (ALSG)Breast cancerBronchopulmonary dysplasia (BPD)Chronic obstructive pulmonary disease (COPD)Cleft palateCongenital alveolar dysplasia (CAD)Congenital heart diseaseConotruncal defects (CTDs)Estrogen-receptor-positive breast cancerExtreme myopiaGastric cancerHigh myopiaLacrimo-auriculo-dento-digital syndrome (LADD)Lethal lung developmental disorders (LLDD)MyopiaNonsyndromic cleft lip with or without cleft palate (NSCL/P)Pancreatic cancerPrimary pulmonary hypoplasia (PH)
PubMedDOIMetascience Observatory

About FGF10

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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