NM_001371928.1(AHDC1):c.1125dup (p.Pro376fs) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome - ClinVar

NM_001371928.1(AHDC1):c.1125dup (p.Pro376fs) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 6, 2003
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001354044.1

Allele description [Variation Report for NM_001371928.1(AHDC1):c.1125dup (p.Pro376fs)]

NM_001371928.1(AHDC1):c.1125dup (p.Pro376fs)

Gene:

AHDC1:AT-hook DNA binding motif containing 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_001371928.1(AHDC1):c.1125dup (p.Pro376fs)

HGVS:

NC_000001.11:g.27550993dup
NG_034158.1:g.57504dup
NM_001029882.3:c.1125dup
NM_001371928.1:c.1125dupMANE SELECT
NP_001025053.1:p.Pro376fs
NP_001358857.1:p.Pro376fs
NC_000001.10:g.27877504dup

Protein change:

P376fs

Links:

dbSNP: rs2148289299

NCBI 1000 Genomes Browser:

rs2148289299

Molecular consequence:

NM_001029882.3:c.1125dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371928.1:c.1125dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Synonyms:: Xia-Gibbs syndrome
Identifiers:: MONDO: MONDO:0014358; MedGen: C4014419; Orphanet: 412069; OMIM: 615829

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001543508	Centre for Human Genetics, University of Kinshasa	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 6, 2003)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 33372375, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001543508

Centre for Human Genetics, University of Kinshasa

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 6, 2003)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
African	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).

Mubungu G, Makay P, Boujemla B, Yanda S, Posey JE, Lupski JR, Bours V, Lukusa P, Devriendt K, Lumaka A.

Am J Med Genet A. 2021 Mar;185(3):990-994. doi: 10.1002/ajmg.a.62049. Epub 2020 Dec 29. Review.

PubMed [citation]

PMID:: 33372375
PMCID:: PMC9235023

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Centre for Human Genetics, University of Kinshasa, SCV001543508.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	1	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed in a boy from DR Congo who presented with global developmental delay, intellectual disability, absent speech, Gross motor development was delayed. His behavior was marked by hyperactivity, attention deficit, impulsivity, aggressive behavior with self-injuries and limited interactions with strangers. MRI showed Small corpus callosum with increased thinning, posterior Posterior cyst. He also had mitral valve insufficiency. Extended clinical description on this patient is available in PMID: 33372375. The variant was confirmed by Sanger sequencing, which all showed that this variant was absent from the unaffected mother. Paternal sample is unavailable to assess for de novo status of the variant. This same variant was previously reported in a 4 year-old boy in PMID: 27148574, in two sibling including a fetus in PMID: 31812316.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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