|
rs1018001612
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These results indicate that the loss of function of APC/C-Cdh1 caused by Cdh1 Asp187Gly mutation is a new cause of prenatal microcephaly, psychomotor retardation, and severe epilepsy.
|
31318984 |
2019 |
|
rs1018001612
|
|
|
0.020 |
GeneticVariation |
BEFREE |
(2019) in the current issue of the Journal of Neurochemistry, in which the authors describe a microcephalic boy carrying the novel heterozygous de novo missense mutation c.560A> G; p.Asp187Gly in Cdh1/Fzr1 encoding the APC/C E3-ubiquitin ligase cofactor CDH1.
|
31441503 |
2019 |
|
rs773550500
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These results indicate that the loss of function of APC/C-Cdh1 caused by Cdh1 Asp187Gly mutation is a new cause of prenatal microcephaly, psychomotor retardation, and severe epilepsy.
|
31318984 |
2019 |
|
rs773550500
|
|
|
0.020 |
GeneticVariation |
BEFREE |
(2019) in the current issue of the Journal of Neurochemistry, in which the authors describe a microcephalic boy carrying the novel heterozygous de novo missense mutation c.560A> G; p.Asp187Gly in Cdh1/Fzr1 encoding the APC/C E3-ubiquitin ligase cofactor CDH1.
|
31441503 |
2019 |
|
rs730882242
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis.
|
26463574 |
2016 |
|
rs730882242
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we show that patients with a homozygous nonsense DIAPH1 alteration (p.Gln778*) have MCP as well as reduced height and weight. diap1 (mDia1 knockout (KO))-deficient mice have grossly normal body and brain size.
|
24781755 |
2015 |
|
rs387907082
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we utilized CRISPR/Cas9 approaches to generate three strains of WDR62 mutant mice; WDR62V66M/V66M and WDR62R439H/R439H mice recapitulate conserved missense mutations found in humans with microcephaly, with the third strain being a null allele (WDR62stop/stop).
|
31816041 |
2020 |
|
rs387907084
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we utilized CRISPR/Cas9 approaches to generate three strains of WDR62 mutant mice; WDR62V66M/V66M and WDR62R439H/R439H mice recapitulate conserved missense mutations found in humans with microcephaly, with the third strain being a null allele (WDR62stop/stop).
|
31816041 |
2020 |
|
rs1455698435
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous frameshift variant [p.(Glu324LysfsTer12)] in AGMO has recently been reported in two male siblings with syndromic microcephaly.
|
31555905 |
2019 |
|
rs1799964
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, rs1799964 SNP at tumor necrosis factor-α gene in CZS babies is associated with severe microcephaly (OR, 2.63; 95% CI, 1.13-6.21).
|
31352487 |
2019 |
|
rs199422124
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A second MCPH1 BRCT1 domain variant (rs199422124C>G; p.Thr27Arg), reported to cause autosomal recessive microcephaly, was not detected in the participants tested here.
|
30859703 |
2019 |
|
rs34832477
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using exome sequencing and family based rare variant analyses, we identified a homozygous variant (c.997C>T [p.Arg333Cys]) in TUBGCP2, encoding gamma-tubulin complex protein 2 (GCP2), in two individuals from a consanguineous family; both individuals presented with microcephaly and developmental delay.
|
31630790 |
2019 |
|
rs3775291
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association Between Zika Virus Microcephaly in Newborns With the rs3775291 Variant in Toll-Like Receptor 3 and rs1799964 Variant at Tumor Necrosis Factor-α Gene.
|
31352487 |
2019 |
|
rs766476013
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A second MCPH1 BRCT1 domain variant (rs199422124C>G; p.Thr27Arg), reported to cause autosomal recessive microcephaly, was not detected in the participants tested here.
|
30859703 |
2019 |
|
rs1131692040
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.K78E substitution appears to be associated with severe microcephaly, seizures, hearing loss, growth retardation, cardiac defects, and dysmorphic facial features.
|
29066376 |
2018 |
|
rs1289819331
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We ruled out the syndromic and metabolic causes of microcephaly and subsequently conducted a panel of genetic diagnostic tests, including the clinical exome sequencing which revealed compound heterozygous mutations in MED 17 gene in both patients. p.Glu16fs was found to be inherited from the mother and p.Gly253Arg from the father.
|
30345598 |
2018 |
|
rs1372862248
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly intellectual disability and developmental delay (IDD).
|
29226631 |
2018 |
|
rs727505397
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Since heterozygosity of other aggregation-inducing mutations (e.g., CASK<sup>W919R</sup>) does not produce MICPCH, we suggest that the G659D mutation produces microcephaly by disrupting the CASK-neurexin interaction.
|
29426960 |
2018 |
|
rs1554263624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In silico modeling, mouse fibroblasts spreading assays, and in vivo overexpression assays using zebrafish as a surrogate model demonstrated that the p.Cys18Tyr and p.Asn39Ser RAC1 variants function as dominant-negative alleles and result in microcephaly, reduced neuronal proliferation, and cerebellar abnormalities in vivo.
|
28886345 |
2017 |
|
rs1554264268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four individuals, each harboring one of c.53G>A (p.Cys18Tyr), c.116A>G (p.Asn39Ser), c.218C>T (p.Pro73Leu), and c.470G>A (p.Cys157Tyr) variants, were microcephalic, with head circumferences between -2.5 to -5 SD.
|
28886345 |
2017 |
|
rs587777034
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly.
|
27747449 |
2017 |
|
rs775277800
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, the naturally occurring microcephaly-associated mutant, RTTN (A578P), shows a low affinity for STIL binding and blocks centriole assembly.
|
28811500 |
2017 |
|
rs201053854
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.
|
27852057 |
2016 |
|
rs587777623
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
|
26834045 |
2016 |
|
rs774912957
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.
|
27852057 |
2016 |