NM_001384125.1(BLTP1):c.3611del (p.Asn1204fs) AND Alkuraya-Kucinskas syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 11, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000576896.1

Allele description [Variation Report for NM_001384125.1(BLTP1):c.3611del (p.Asn1204fs)]

NM_001384125.1(BLTP1):c.3611del (p.Asn1204fs)

Gene:

BLTP1:bridge-like lipid transfer protein family member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q27

Genomic location:

Preferred name:

NM_001384125.1(BLTP1):c.3611del (p.Asn1204fs)

HGVS:

NC_000004.12:g.122238128del
NG_015813.2:g.72526del
NM_001384125.1:c.3611delMANE SELECT
NM_015312.4:c.3611del
NP_001371054.1:p.Asn1204fs
NP_056127.2:p.Asn1204fs
NC_000004.11:g.123159283del
NM_015312.3:c.3611delA

Protein change:

N1204fs

Links:

OMIM: 611565.0004; dbSNP: rs775516790

NCBI 1000 Genomes Browser:

rs775516790

Molecular consequence:

NM_001384125.1:c.3611del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015312.4:c.3611del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Alkuraya-Kucinskas syndrome
Identifiers:: MONDO: MONDO:0060631; MedGen: C4693347; OMIM: 617822

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000678302	OMIM	no assertion criteria provided	Pathogenic (Jan 11, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000678302

OMIM

no assertion criteria provided

Pathogenic
(Jan 11, 2018)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, et al.

Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28.

PubMed [citation]

PMID:: 29290337
PMCID:: PMC5777449

Details of each submission

From OMIM, SCV000678302.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 sibs and 2 affected fetuses, born of unrelated parents from Singapore (family SG), with Alkuraya-Kucinskas syndrome (ALKKUCS; 617822), Gueneau et al. (2018) identified compound heterozygous mutations in the KIAA1109 gene: a 1-bp deletion (c.3611delA, NM_015312.3), predicted to result in a frameshift and premature termination (Asn1204ThrfsTer6), and a c.2902C-T transition, predicted to result in an arg968-to-cys (R968C; 611565.0005) substitution at a highly conserved residue. The c.2902C-T transition, in exon 24, was also predicted to alter splicing, thus possibly resulting in a loss of function. The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Neither variant was found in the dbSNP (build 147) database; only c.3611delA was found at a very low frequency in the ExAC database. Functional studies of the variants and studies of patient cells were not performed.

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

Last Updated: Jun 3, 2022

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