4 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta
    2
    1. ClingenBaseline 21 Oct 2026
      family 2

      FamilyName: Family 2

      FamilyPresentingHPOs: HP:0000685

      FamilyNotHPOs:

      CountryOrigin: Pakistan

      Ethnicity: Pakistani

      Race: Asian

      FamilyPreviousTesting: n/a

      FamilyMethod1: WES

      FamilyMethod2:

      FamilyGenotypingMethod: Whole exome sequencing identified 26 regions of homozygosity for Family 1, specifically from WES of the proband IV:3 (Supplemental Table 4).

      Affected: 1

      Unaffected: 2

      Segregations: 0

      Consanguineous: yes

      PublishedLOD: n/a The minimum requirement for segregation inclusion is not met according to the ClinGen SOP version 6.

      eLOD: n/a

      AddSegregationInfo: Three other siblings were not tested for the variant, and appeared to not have the phenotype, including a set of twins (whether dizygotic or monozygotic was not noted).

      ProbandLabel: Family 2-IV:2, female

      Variant: NM_033068.2(ACP4):c.428C>T (p.Thr143Met)

      Assumed Homozygous, only the mother was tested for the ACPT mutation, not the father.

      ClinVar: 375700

      gnomAD: MAF= 0.0001592 (Other 1/6282) AFt=5.210E-4, no homozygotes.

      FamilyAddInfo: WES identified 26 regions of homozygosity for Family 1 (Supplemental Table 4).

      Variant deposited into the Leeds AI repository in LOVD, variant #0000000187.

      FamilyPMIDs:

      CasePresentingHPOs:

      CaseNOTHPOS:

      CasePreviousTesting: n/a

      CaseGenotypingMethod: WES identified 26 regions of homozygosity in which 2 genes, other than ACPT were flagged. These 2 genes/ variants are C18orf25:c.517G>C(p.G172C) (not in gnoMAD) and BTBD7:c.1083G>T(p.K361N) (in gnoMAD, 176 hets and 1 homozyoug AF= 0.007). These variants segregated with disease along with the ACPT variation.

      CaseInfo ACPT inferred_gene_hgnc:14376 inferred_gene_source:RefSeq UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      family 2

      FamilyName: Family 2

      FamilyPresentingHPOs: HP:0000685

      FamilyNotHPOs:

      CountryOrigin: Pakistan

      Ethnicity: Pakistani

      Race: Asian

      FamilyPreviousTesting: n/a

      FamilyMethod1: WES

      FamilyMethod2:

      FamilyGenotypingMethod: Whole exome sequencing identified 26 regions of homozygosity for Family 1, specifically from WES of the proband IV:3 (Supplemental Table 4).

      Affected: 1

      Unaffected: 2

      Segregations: 0

      Consanguineous: yes

      PublishedLOD: n/a The minimum requirement for segregation inclusion is not met according to the ClinGen SOP version 6.

      eLOD: n/a

      AddSegregationInfo: Three other siblings were not tested for the variant, and appeared to not have the phenotype, including a set of twins (whether dizygotic or monozygotic was not noted).

      ProbandLabel: Family 2-IV:2, female

      Variant: NM_033068.2(ACP4):c.428C>T (p.Thr143Met)

      Assumed Homozygous, only the mother was tested for the ACPT mutation, not the father.

      ClinVar: 375700

      gnomAD: MAF= 0.0001592 (Other 1/6282) AFt=5.210E-4, no homozygotes.

      FamilyAddInfo: WES identified 26 regions of homozygosity for Family 1 (Supplemental Table 4).

      Variant deposited into the Leeds AI repository in LOVD, variant #0000000187.

      FamilyPMIDs:

      CasePresentingHPOs:

      CaseNOTHPOS:

      CasePreviousTesting: n/a

      CaseGenotypingMethod: WES identified 26 regions of homozygosity in which 2 genes, other than ACPT were flagged. These 2 genes/ variants are C18orf25:c.517G>C(p.G172C) (not in gnoMAD) and BTBD7:c.1083G>T(p.K361N) (in gnoMAD, 176 hets and 1 homozyoug AF= 0.007). These variants segregated with disease along with the ACPT variation.

      CaseInfo ACPT inferred_gene_hgnc:14376 inferred_gene_source:RefSeq UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC5511509/
  3. www.sciencedirect.com www.sciencedirect.com
    Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta
    2
    1. ClingenBaseline 21 Oct 2026
      Haplotype analyses using exon-specific primers (Table S3) on families 1, 4, and 5 showed they carried the allele on a common founder haplotype and suggested that the c.713C>T (p.Ser238Leu) change is a founder variant

      Family Name: Family 5

      FamilyPresentingHPOs: HP:0000705

      FamilyNotHPOs:

      CountryOrigin: Turkey

      Ethnicity: Turkish

      Race: n/a

      FamilyPreviousTesting: candidate gene sequencing, array comparative genomic hybridization, or exome sequencing

      FamilyGenotypingMethod: WES

      Affected: 1

      Unaffected: 4

      Segregations: n/a

      PublishedLOD: n/a

      eLOD: n/a

      AddSegregationInfo: non-consanguineous family

      ProbandLabel:

      Variant: NM_033068.2(ACP4):c.713C>T (p.Ser238Leu)

      ClinVar or CAID: 374862, https://www.ncbi.nlm.nih.gov/clinvar/variation/374862/

      genomAD: 8.127e-6, http://gnomad.broadinstitute.org/variant/19-51297008-C-T

      FamilyAddInfo: parents unaffected

      CasePresentingHPOs: HP:0006316, HP:0006297, HP:0011055, HP:0011079, HP:0011073

      CasePresentingHPOTerm: wide interdental spacing due to thin enamel, missing second mandibular permanent molar, maxillary canine not yet erupted, black staining on maxillary anterior teeth and first permanent molars, brown staining on posterior teeth

      CaseNotHPOs: HP:0010299

      AddCaseInfo:

      VariantEvidence:

      CaseInfo FamilyInfo inferred_gene_hgnc:14376 inferred_gene_source:RefSeq UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      Haplotype analyses using exon-specific primers (Table S3) on families 1, 4, and 5 showed they carried the allele on a common founder haplotype and suggested that the c.713C>T (p.Ser238Leu) change is a founder variant

      Family Name: Family 5

      FamilyPresentingHPOs: HP:0000705

      FamilyNotHPOs:

      CountryOrigin: Turkey

      Ethnicity: Turkish

      Race: n/a

      FamilyPreviousTesting: candidate gene sequencing, array comparative genomic hybridization, or exome sequencing

      FamilyGenotypingMethod: WES

      Affected: 1

      Unaffected: 4

      Segregations: n/a

      PublishedLOD: n/a

      eLOD: n/a

      AddSegregationInfo: non-consanguineous family

      ProbandLabel:

      Variant: NM_033068.2(ACP4):c.713C>T (p.Ser238Leu)

      ClinVar or CAID: 374862, https://www.ncbi.nlm.nih.gov/clinvar/variation/374862/

      genomAD: 8.127e-6, http://gnomad.broadinstitute.org/variant/19-51297008-C-T

      FamilyAddInfo: parents unaffected

      CasePresentingHPOs: HP:0006316, HP:0006297, HP:0011055, HP:0011079, HP:0011073

      CasePresentingHPOTerm: wide interdental spacing due to thin enamel, missing second mandibular permanent molar, maxillary canine not yet erupted, black staining on maxillary anterior teeth and first permanent molars, brown staining on posterior teeth

      CaseNotHPOs: HP:0010299

      AddCaseInfo:

      VariantEvidence:

      CaseInfo FamilyInfo inferred_gene_hgnc:14376 inferred_gene_source:RefSeq UNC Biocuration Core
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    URL

    sciencedirect.com/science/article/pii/S0002929716303998