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*300080
Table of Contents
Alternative titles; symbols
HGNC Approved Gene Symbol: RBM10
Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38) : X:47,145,221-47,186,813 (from NCBI)
Nagase et al. (1995) cloned an RNA-binding protein as part of a random sequencing project of cDNAs from a myeloid cell line. They determined that this clone, which they termed KIAA0122, encodes a putative polypeptide of 880 amino acids that has significant homology with several RNA-binding proteins. Northern blot analysis revealed wide, perhaps ubiquitous, expression.
The S1 proteins are a group of nuclear proteins that occur in association with hnRNA in the cell nucleus. Inoue et al. (1996) cloned a rat homolog of human KIAA0122, which they termed S1-1. Based on protein microsequences, they noted that the rat S1-1 sequence had 2 ribonucleoprotein (RNP) motifs but was distinct from other S1 proteins. They showed that the S1-1 protein has RNA-binding activity.
Coleman et al. (1996) used cDNA selection to clone coding regions near the UBE1 (314370) gene at Xp11.23. They isolated and sequenced a clone, which they termed DXS8237E. They noted that the human S1-1 gene and the UBE1 gene are only 20 kb apart, yet have discordant X-inactivation profiles.
Johnston et al. (2010) noted that the RBM10 gene and its 930-amino acid protein product are members of the RNA binding motif (RBM) family. RBM10 is predicted to include a zinc finger motif, a G-patch domain, and 2 RNA recognition motif (RRM) domains. Alternative splicing results in an 852-amino acid variant, which excludes exon 4. Mouse Rbm10 isoform-1 shares 96% amino acid identity with the human protein.
Johnston et al. (2010) stated that the RBM10 gene contains 24 exons.
Coleman et al. (1996) mapped the RBM10 gene near the UBE1 (314370) gene at Xp11.23.
Using massively parallel sequencing of X chromosome exons and screening of sequence data with successive filtering criteria, Johnston et al. (2010) identified a frameshift and a nonsense mutation in the RBM10 gene (300080.0001 and 300080.0002, respectively) in affected individuals and obligate carriers from 2 families with TARP syndrome (TARPS; 311900) in which the disease had been mapped to chromosome Xp11.23-q13.3.
By whole-exome sequencing in a family in which 3 males had features of TARP syndrome, Johnston et al. (2014) identified a nonsense mutation in the RBM10 gene (300080.0003).
By targeted sequencing of a specimen obtained via amniocentesis from a male infant with a maternal family history of suspected TARP syndrome and identification of a heterozygous RBM10 variant in the maternal great-grandmother, Kaeppler et al. (2018) identified a single nucleotide duplication in the RBM10 gene (300080.0004), consistent with the diagnosis of TARP syndrome.
In an 11-year-old boy with TARP syndrome, Niceta et al. (2019) identified a frameshift mutation in the RBM10 gene (300080.0005). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was inherited from the mother.
Johnston et al. (2010) characterized Rbm10 expression in midgestation mouse embryos and observed the most robust staining in the first branchial arch, which gives rise to the mandible, as well as in the second branchial arch, the developing limb buds, and the tailbud. The authors noted that this pattern of expression correlated well with the human malformations observed in TARP syndrome, which include severe micrognathia and limb defects.
In the affected male members of a family with TARP syndrome (TARPS; 311900) that was originally reported by Gorlin et al. (1970), Johnston et al. (2010) identified a 1-bp insertion (c.1893insA, NM_005676.3) in exon 16 of the RBM10 gene, predicted to cause a frameshift and premature termination (Pro632ThrfsTer41). The mutation segregated with known carrier status in the family.
In the affected male members of a family with TARP syndrome (TARPS; 311900), Johnston et al. (2010) identified a c.1235G-A transition (c.1235G-A, NM_005676.3) in exon 12 of the RBM10 gene, predicted to cause a trp412-to-ter (W412X) substitution. The mutation segregated with known carrier status in the family.
By whole-exome sequencing in a male proband with TARP syndrome (TARPS; 311900), who had an initial tentative diagnosis of atypical orofaciodigital syndrome, Johnston et al. (2014) identified a c.448C-T transition (c.448C-T, NM_005676.4) in the RBM10 gene, resulting in a gln150-to-ter (Q150X) substitution. X-chromosome inactivation studies showed absence of skewing in maternal DNA. Sanger sequence analysis and restriction enzyme digestion confirmed the presence of the mutation in the proband and identified low-level mosaicism in the mother. Two of the patient's brothers had similar clinical features, but DNA samples were not available. None of the brothers had talipes, and additional features included polydactyly, syndactyly, absent septum pellucidum, small cerebellar vermis, and horseshoe kidney.
By targeted sequencing of a specimen obtained via amniocentesis from a male infant with a maternal family history of suspected TARP syndrome and identification of a heterozygous RBM10 variant in the maternal great-grandmother, Kaeppler et al. (2018) identified a 1-bp duplication (c.1893dup, NM_005676.4) in RBM10, resulting in a frameshift and premature termination (Pro632ThrfsTer41), consistent with the diagnosis of TARP syndrome (TARPS; 311900). The variant is predicted to result in a loss of function.
In an 11-year-old boy with TARP syndrome (TARPS; 311900), Niceta et al. (2019) identified a 2-bp deletion (c.1999_2000delAG, NM_001204468.1) in the RBM10 gene, predicted to cause a frameshift and premature termination (Ser667ProfsTer25). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was inherited from his mother. The variant was not present in the dbSNP or ExAC databases or in an in-house database of 1000 matched exomes. Analysis of RNA from patient and maternal leukocytes showed complete decay of the RBM10 transcript in the patient, and loss of the mutated RBM10 transcript in the mother.
Coleman, M. P., Ambrose, H. J., Carrel, L., Nemeth, A. H., Willard, H. F., Davies, K. E. A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status. Genomics 31: 135-138, 1996. [PubMed: 8808293, related citations] [Full Text]
Gorlin, R. J., Cervenka, J., Anderson, R. C., Sauk, J. J., Bevis, W. D. Robin's syndrome: a probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. Am. J. Dis. Child. 119: 176-178, 1970. [PubMed: 5410571, related citations]
Inoue, A., Takahashi, K. P., Kimura, M., Watanabe, T., Morisawa, S. Molecular cloning of a RNA binding protein, S1-1. Nucleic Acids Res. 24: 2990-2997, 1996. [PubMed: 8760884, related citations] [Full Text]
Johnston, J. J., Sapp, J. C., Curry, C., Horton, M., Leon, E., Cusmano-Ozog, K., Dobyns, W. B., Hudgins, L., Zackai, E., Biesecker, L. G. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am. J. Med. Genet. 164A: 120-128, 2014. [PubMed: 24259342, images, related citations] [Full Text]
Johnston, J. J., Teer, J. K., Cherukuri, P. F., Hansen, N. F., Loftus, S. K., NIH Intramural Sequencing Center, Chong, K., Mullikin, J. C., Biesecker, L. G. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am. J. Hum. Genet. 86: 743-748, 2010. [PubMed: 20451169, images, related citations] [Full Text]
Kaeppler, K. E., Stetson, R. C., Lanpher, B. C., Collura, C. A. Infant male with TARP syndrome: review of clinical features, prognosis, and commonalities with previously reported patients. Am. J. Med. Genet. 176A: 2911-2914, 2018. [PubMed: 30450804, related citations] [Full Text]
Nagase, T., Seki, N., Tanaka, A., Ishikawa, K., Nomura, N. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. DNA Res. 2: 167-174, 1995. [PubMed: 8590280, related citations] [Full Text]
Niceta, M., Barresi, S., Pantaleoni, F., Capolino, R., Dentici, M. L., Ciolfi, A., Pizzi, S., Bartuli, A., Dallapiccola, B., Tartaglia, M., Digilio, M. C. TARP syndrome: long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations. Europ. J. Med. Genet. 62: 103534, 2019. Note: Electronic Article. [PubMed: 30189253, related citations] [Full Text]
Alternative titles; symbols
HGNC Approved Gene Symbol: RBM10
SNOMEDCT: 725911008;
Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38) : X:47,145,221-47,186,813 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| Xp11.3 | TARP syndrome | 311900 | X-linked recessive | 3 |
Nagase et al. (1995) cloned an RNA-binding protein as part of a random sequencing project of cDNAs from a myeloid cell line. They determined that this clone, which they termed KIAA0122, encodes a putative polypeptide of 880 amino acids that has significant homology with several RNA-binding proteins. Northern blot analysis revealed wide, perhaps ubiquitous, expression.
The S1 proteins are a group of nuclear proteins that occur in association with hnRNA in the cell nucleus. Inoue et al. (1996) cloned a rat homolog of human KIAA0122, which they termed S1-1. Based on protein microsequences, they noted that the rat S1-1 sequence had 2 ribonucleoprotein (RNP) motifs but was distinct from other S1 proteins. They showed that the S1-1 protein has RNA-binding activity.
Coleman et al. (1996) used cDNA selection to clone coding regions near the UBE1 (314370) gene at Xp11.23. They isolated and sequenced a clone, which they termed DXS8237E. They noted that the human S1-1 gene and the UBE1 gene are only 20 kb apart, yet have discordant X-inactivation profiles.
Johnston et al. (2010) noted that the RBM10 gene and its 930-amino acid protein product are members of the RNA binding motif (RBM) family. RBM10 is predicted to include a zinc finger motif, a G-patch domain, and 2 RNA recognition motif (RRM) domains. Alternative splicing results in an 852-amino acid variant, which excludes exon 4. Mouse Rbm10 isoform-1 shares 96% amino acid identity with the human protein.
Johnston et al. (2010) stated that the RBM10 gene contains 24 exons.
Coleman et al. (1996) mapped the RBM10 gene near the UBE1 (314370) gene at Xp11.23.
Using massively parallel sequencing of X chromosome exons and screening of sequence data with successive filtering criteria, Johnston et al. (2010) identified a frameshift and a nonsense mutation in the RBM10 gene (300080.0001 and 300080.0002, respectively) in affected individuals and obligate carriers from 2 families with TARP syndrome (TARPS; 311900) in which the disease had been mapped to chromosome Xp11.23-q13.3.
By whole-exome sequencing in a family in which 3 males had features of TARP syndrome, Johnston et al. (2014) identified a nonsense mutation in the RBM10 gene (300080.0003).
By targeted sequencing of a specimen obtained via amniocentesis from a male infant with a maternal family history of suspected TARP syndrome and identification of a heterozygous RBM10 variant in the maternal great-grandmother, Kaeppler et al. (2018) identified a single nucleotide duplication in the RBM10 gene (300080.0004), consistent with the diagnosis of TARP syndrome.
In an 11-year-old boy with TARP syndrome, Niceta et al. (2019) identified a frameshift mutation in the RBM10 gene (300080.0005). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was inherited from the mother.
Johnston et al. (2010) characterized Rbm10 expression in midgestation mouse embryos and observed the most robust staining in the first branchial arch, which gives rise to the mandible, as well as in the second branchial arch, the developing limb buds, and the tailbud. The authors noted that this pattern of expression correlated well with the human malformations observed in TARP syndrome, which include severe micrognathia and limb defects.
In the affected male members of a family with TARP syndrome (TARPS; 311900) that was originally reported by Gorlin et al. (1970), Johnston et al. (2010) identified a 1-bp insertion (c.1893insA, NM_005676.3) in exon 16 of the RBM10 gene, predicted to cause a frameshift and premature termination (Pro632ThrfsTer41). The mutation segregated with known carrier status in the family.
In the affected male members of a family with TARP syndrome (TARPS; 311900), Johnston et al. (2010) identified a c.1235G-A transition (c.1235G-A, NM_005676.3) in exon 12 of the RBM10 gene, predicted to cause a trp412-to-ter (W412X) substitution. The mutation segregated with known carrier status in the family.
By whole-exome sequencing in a male proband with TARP syndrome (TARPS; 311900), who had an initial tentative diagnosis of atypical orofaciodigital syndrome, Johnston et al. (2014) identified a c.448C-T transition (c.448C-T, NM_005676.4) in the RBM10 gene, resulting in a gln150-to-ter (Q150X) substitution. X-chromosome inactivation studies showed absence of skewing in maternal DNA. Sanger sequence analysis and restriction enzyme digestion confirmed the presence of the mutation in the proband and identified low-level mosaicism in the mother. Two of the patient's brothers had similar clinical features, but DNA samples were not available. None of the brothers had talipes, and additional features included polydactyly, syndactyly, absent septum pellucidum, small cerebellar vermis, and horseshoe kidney.
By targeted sequencing of a specimen obtained via amniocentesis from a male infant with a maternal family history of suspected TARP syndrome and identification of a heterozygous RBM10 variant in the maternal great-grandmother, Kaeppler et al. (2018) identified a 1-bp duplication (c.1893dup, NM_005676.4) in RBM10, resulting in a frameshift and premature termination (Pro632ThrfsTer41), consistent with the diagnosis of TARP syndrome (TARPS; 311900). The variant is predicted to result in a loss of function.
In an 11-year-old boy with TARP syndrome (TARPS; 311900), Niceta et al. (2019) identified a 2-bp deletion (c.1999_2000delAG, NM_001204468.1) in the RBM10 gene, predicted to cause a frameshift and premature termination (Ser667ProfsTer25). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was inherited from his mother. The variant was not present in the dbSNP or ExAC databases or in an in-house database of 1000 matched exomes. Analysis of RNA from patient and maternal leukocytes showed complete decay of the RBM10 transcript in the patient, and loss of the mutated RBM10 transcript in the mother.
Coleman, M. P., Ambrose, H. J., Carrel, L., Nemeth, A. H., Willard, H. F., Davies, K. E. A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status. Genomics 31: 135-138, 1996. [PubMed: 8808293] [Full Text: https://doi.org/10.1006/geno.1996.0022]
Gorlin, R. J., Cervenka, J., Anderson, R. C., Sauk, J. J., Bevis, W. D. Robin's syndrome: a probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. Am. J. Dis. Child. 119: 176-178, 1970. [PubMed: 5410571]
Inoue, A., Takahashi, K. P., Kimura, M., Watanabe, T., Morisawa, S. Molecular cloning of a RNA binding protein, S1-1. Nucleic Acids Res. 24: 2990-2997, 1996. [PubMed: 8760884] [Full Text: https://doi.org/10.1093/nar/24.15.2990]
Johnston, J. J., Sapp, J. C., Curry, C., Horton, M., Leon, E., Cusmano-Ozog, K., Dobyns, W. B., Hudgins, L., Zackai, E., Biesecker, L. G. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am. J. Med. Genet. 164A: 120-128, 2014. [PubMed: 24259342] [Full Text: https://doi.org/10.1002/ajmg.a.36212]
Johnston, J. J., Teer, J. K., Cherukuri, P. F., Hansen, N. F., Loftus, S. K., NIH Intramural Sequencing Center, Chong, K., Mullikin, J. C., Biesecker, L. G. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am. J. Hum. Genet. 86: 743-748, 2010. [PubMed: 20451169] [Full Text: https://doi.org/10.1016/j.ajhg.2010.04.007]
Kaeppler, K. E., Stetson, R. C., Lanpher, B. C., Collura, C. A. Infant male with TARP syndrome: review of clinical features, prognosis, and commonalities with previously reported patients. Am. J. Med. Genet. 176A: 2911-2914, 2018. [PubMed: 30450804] [Full Text: https://doi.org/10.1002/ajmg.a.40645]
Nagase, T., Seki, N., Tanaka, A., Ishikawa, K., Nomura, N. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. DNA Res. 2: 167-174, 1995. [PubMed: 8590280] [Full Text: https://doi.org/10.1093/dnares/2.4.167]
Niceta, M., Barresi, S., Pantaleoni, F., Capolino, R., Dentici, M. L., Ciolfi, A., Pizzi, S., Bartuli, A., Dallapiccola, B., Tartaglia, M., Digilio, M. C. TARP syndrome: long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations. Europ. J. Med. Genet. 62: 103534, 2019. Note: Electronic Article. [PubMed: 30189253] [Full Text: https://doi.org/10.1016/j.ejmg.2018.09.001]
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