NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly) AND Xia-Gibbs syndrome

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Dec 7, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000709700.2

Allele description [Variation Report for NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly)]

NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly)

Gene:
AHDC1:AT-hook DNA binding motif containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly)
HGVS:
  • NC_000001.11:g.27547746T>C
  • NG_034158.1:g.60749A>G
  • NM_001029882.3:c.4370A>G
  • NM_001371928.1:c.4370A>GMANE SELECT
  • NP_001025053.1:p.Asp1457Gly
  • NP_001358857.1:p.Asp1457Gly
  • NC_000001.10:g.27874257T>C
Protein change:
D1457G; ASP1457GLY
Links:
OMIM: 615790.0005; dbSNP: rs1557655967
NCBI 1000 Genomes Browser:
rs1557655967
Molecular consequence:
  • NM_001029882.3:c.4370A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371928.1:c.4370A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Xia-Gibbs syndrome (XIGIS)
Identifiers:
MONDO: MONDO:0014358; MedGen: C4014419; Orphanet: 412069; OMIM: 615829

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000693854Clinical Genetics Laboratory,Harran Universityno assertion criteria providedLikely pathogenic
(Mar 12, 2018)
de novoclinical testing

SCV001449159OMIMno assertion criteria providedPathogenic
(Dec 7, 2020)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
Turkishde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation.

Gumus E.

Eur J Med Genet. 2020 Jan;63(1):103637. doi: 10.1016/j.ejmg.2019.03.001. Epub 2019 Mar 8.

PubMed [citation]
PMID:
30858058

Details of each submission

From Clinical Genetics Laboratory,Harran University, SCV000693854.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Turkish1not providednot providedclinical testingnot provided

Description

This missense mutation (c.4370A>G) in AHDC1 gene is found in two years old girl from Turkey who presented developmental delay, no speech, seizures, structural brain anomalies, microcephaly, brachycephaly, operated craniosynostosis, hypotonia, feeding problems, protuberant ears, strabismus, snoring, laryngomalacia, constipation and electrolyte imbalance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

From OMIM, SCV001449159.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 2-year-old Turkish girl with Xia-Gibbs syndrome (XIGIS; 615829), Gumus (2020) identified a de novo c.4370A-G transition (c.4370A-G, NM_001029882) in exon 6 of the AHDC1 gene, resulting in an asp1457-to-gly (D1457G) substitution. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. The mutation was absent in the ExAC, 1000 Genomes Project, and NHLBI Exome Sequencing Project databases. Functional studies were not performed. The patient had developmental delay, structural brain abnormalities, seizures, and craniosynostosis.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2020

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