|
rs1057517718
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results show that p.Tyr715Cys is a gain-of-function CLCN7 variant associated with developmental delay, organomegaly, and hypopigmentation resulting from lysosomal hyperacidity, abnormal storage, and enlarged intracellular vacuoles.
|
31155284 |
2019 |
|
rs121434618
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The severe male X-linked recessive microphthalmia syndrome ('Lenz') usually includes developmental delay in addition to the eye findings and is caused by hypomorphic BCOR variants, mainly by a specific missense variant c.254C > T, p.(Pro85Leu).
|
29974297 |
2019 |
|
rs142375870
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the first patient with two compound heterozygous novel MAG mutations (p.A151V and p.S373R) and early developmental delay with a progressive complex phenotype characterized by spastic paraplegia, peripheral sensorimotor neuropathy, intellectual disability, and sensorial dysfunctions with severe optic atrophy and hearing involvement.
|
31402626 |
2019 |
|
rs144553163
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the first patient with two compound heterozygous novel MAG mutations (p.A151V and p.S373R) and early developmental delay with a progressive complex phenotype characterized by spastic paraplegia, peripheral sensorimotor neuropathy, intellectual disability, and sensorial dysfunctions with severe optic atrophy and hearing involvement.
|
31402626 |
2019 |
|
rs200345816
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The second individual had a homozygous missense mutation (c.1929C>A [p.His643Gln]) and presented with developmental delay and epilepsy in childhood.
|
30982608 |
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 |
|
rs587777585
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among these, the rare homozygous c.1100C > T (p.Thr367Ile) mutation variably presents with progressive developmental delay, axial hypotonia, limbs spasticity, drug-resistant epilepsy leading, in some cases, to premature death.
|
31064326 |
2019 |
|
rs757533393
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that this N-glycan of POFUT1 is not required for its proper enzymatic function, and that the p.Ser162Leu mutation of POFUT1 likely causes global developmental delay, microcephaly with vascular and cardiac defects.
|
29452367 |
2018 |
|
rs1310897090
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patient 2: NBAS c.5741G>A p.(Arg1914His); c.2032C>T p.(Gln678*) in a 5-year old boy with similar presenting features, bone fragility, mild developmental delay, abnormal liver function tests and immunodeficiency.
|
27789416 |
2017 |
|
rs1555545033
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous THRA mutations occurring de novo were identified in a 17-year-old male (patient P1; c.788C>T, p.A263V mutation) investigated for mild pubertal delay and in a 15-year-old male (patient P2; c.821T>C, p.L274P mutation) with short stature (0.4th centile), skeletal dysplasia, dysmorphic facies, and global developmental delay.
|
28471274 |
2017 |
|
rs574384755
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a pair of siblings carrying a homozygous missense mutation p.P333L in EEF1A2 who exhibited global developmental delay, failure to thrive, dilated cardiomyopathy and epilepsy, ultimately leading to death in early childhood.
|
28911200 |
2017 |
|
rs879255597
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria.
|
28515470 |
2017 |
|
rs1057517846
|
|
|
0.010 |
GeneticVariation |
BEFREE |
W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.
|
27495153 |
2016 |
|
rs121908332
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Exome sequencing in four new patients with developmental delay and central hypotonia revealed de novo G236R mutations.
|
27151206 |
2016 |
|
rs145536528
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated with DD, microcephaly, craniofacial and cardiac defects.
|
27804958 |
2016 |
|
rs1467607281
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
|
27640307 |
2016 |
|
rs2076101
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A common six-Single Nucleotide Polymorphism (SNP) haplotype of A3F tagged by a codon-changing variant (p. I231V, with allele (V) frequency of 48% in European Americans) was associated with significantly lower set-point viral load and slower rate of progression to AIDS (Relative Hazards (RH) = 0.71, 95% CI: 0.56, 0.91) and delayed development of pneumocystis pneumonia (PCP) (RH = 0.53, 95% CI: 0.37-0.76).
|
26942578 |
2016 |
|
rs376621016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The TBX5 variation p.Pro108Thr, located in the T-box domain, was identified in a patient with tricuspid atresia, an exon-intron boundary variation of GATA4 (IVS4+5G>A) was detected in a Tetralogy of Fallot patient and an 8p23 microdeletion was detected in one patient with atrioventricular septal defect and psychomotor delay.
|
26490186 |
2016 |
|
rs398123001
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated with DD, microcephaly, craniofacial and cardiac defects.
|
27804958 |
2016 |
|
rs587780455
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the same SCN8A variant (c.5630A > G, p. (Asn1877Ser)) is also found in patients with epilepsy and developmental delay highlighting the phenotypic variability and the possible role of other protective genetic factors.
|
27210545 |
2016 |
|
rs746536347
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
|
27640307 |
2016 |
|
rs746536347
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
|
27640307 |
2016 |
|
rs750745310
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
|
27640307 |
2016 |
|
rs786203986
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a de novo missense mutation in NALCN, c.1768C>T, in an infant with a severe neonatal lethal form of the recently characterized CLIFAHDD syndrome (congenital contractures of the limbs and face with hypotonia and developmental delay).
|
27558372 |
2016 |
|
rs886041459
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, comprehensive mutation screening through next-generation sequencing identified a novel TUBB3 mutation (p.Ser230Leu) in a sporadic patient with moderate developmental delay associated with mild MCD.
|
26739025 |
2016 |