From: A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom
Country | Variation | Type | PS | HA | FD | MR | HG | O/O | CT | SS | Particularity | Ref. |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Pakistan | c.339 +1G > A | Splice | N | Y | Y | Y | NA | NA | Y | Y | Mitral regurgitation | [7] |
Caucasian | c.2T>C (initiation codon) | N | Y | Y | Y | NA | Y | N | N | Autism spectrum disorder | [9] | |
Caucasian | Deletion of ∼120kb; c.227delG | Deletion | N | Y | Y | Y | NA | Y | Y | Y | Aortic arch with aberrant left subclavian artery | [9] |
Caucasian | c.277delT; Deletion of ∼92 kb | Deletion | N | Y | Y | NA | NA | NA | NA | Y | Atrial septal defect; pulmonic stenosis | [9] |
Caucasian | 4 bp insertion & deletion of ∼5kb starting at c.279 | Insertion & deletion | Y | Y | Y | Y | NA | NA | NA | Y | Autism spectrum disorder; epilepsy with grand mal seizures | [9] |
Israel | c.505dupA mutation | Duplication | N | Y | NA | Y | Y | NA | N | Renal failure, splenomegaly | [8] | |
Netherlands | c.326delA | Deletion | NA? | Y? | NA | Y? | NA | NA | NA | NA | NA | [12] |
Italy | Deletion of 11-31kb | Deletion | N | Y | NA | NA | NA | NA | NA | Y | Axial hypotonia and reduced motor coordination | [10] |
Italy | c.148_152delCAC AC | Deletion | N | Y | NA | Y | NA | NA | NA | Y | Failure to thrive, very poor motor performances and speech | [10] |
Italy | c.277delTc.148_15 2delCACAC | Deletion | N | Y | NA | NA | NA | NA | NA | Y | Axial hypotonia and reduced motor coordination | [10] |
Kuwait (Indian) | c.229delC | Deletion | N | Y | NA | Y | NA | NA | NA | Y | Failure to thrive, very poor motor performances and speech | [10] |
Iraq | Deletion of at least 150 kb | Deletion | N | Y | NA | NA | NA | NA | NA | Y | Axial hypotonia and reduced motor coordination | [10] |
Netherlands | c.277delT | Deletion | N | Y | NA | NA | NA | NA | NA | Y | Axial hypotonia and reduced motor coordination | [10] |
Italy | partial exon 1 and entire exon 2 | Deletion | N | Y | NA | Y | NA | NA | NA | Y | Severe nervous system impairment | [5] |
Morocco | 187_188delGG | Deletion | N | Y | Y | Y | Y | Y | NA | Y | Ataxia | |
Amish | c.480A>G | A ->G | NA | Y | NA | Y | Y | NA | NA | Y | [5] | |
Peru | {arr[hg19]7p14.1 (40,140,770-40,265,451)x0} | a 125 kb homozygous deletion | NA | Y | Y | Y | NA | NA | NA | Y | Glutaric Aciduria type 3 | [11] |
China | rs747470385 | -/G | N | Y | N | Y | Y | Y | Y | Y | This study |