Kufor-Rakeb Syndrome/PARK9 : One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation
Kufor-Rakeb syndrome (KRS)/PARK9 presents with autosomal recessive young onset Parkinson's disease (YOPD), spastic paraparesis, abnormal eye movements and facial myokymia. KRS is caused by homozygous/compound heterozygous inactivating mutations in ATP13A2. Two affected siblings (born to non-consanguineous Jewish parents) presenting a similar KRS phenotype (onset age 27, 23), carried compound heterozygous pathogenic variants in ATP13A2: c.217_218insG and c.3057delC. Allele frequency of the c.3057delC mutation was about 100 times higher in Ashkenazi controls in our study (1/190 = 0.00526) and in the Genome Aggregation Database, (GnomAD, 27/10132 = 0.002665) versus non-Ashkenazi controls worldwide in GnomAD (9/264566 = 0.000034018, p < 0.0001). The c.217_218insG mutation is novel and not found in controls or GnomAD. The c.3057delC mutation should be included in the genetic workup of Ashkenazi YOPD patients.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2018 |
|---|---|
| Erschienen: |
2018 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:8 |
|---|---|
| Enthalten in: |
Journal of Parkinson's disease - 8(2018), 3 vom: 02., Seite 399-403 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Inzelberg, Rivka [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
ATP13A2 protein, human |
|---|
| Anmerkungen: |
Date Completed 15.10.2019 Date Revised 15.10.2019 published: Print Citation Status MEDLINE |
|---|
| doi: |
10.3233/JPD-181360 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM286092689 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM286092689 | ||
| 003 | DE-627 | ||
| 005 | 20231227170431.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2018 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.3233/JPD-181360 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n0953.xml |
| 035 | |a (DE-627)NLM286092689 | ||
| 035 | |a (NLM)29966207 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Inzelberg, Rivka |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Kufor-Rakeb Syndrome/PARK9 |b One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation |
| 264 | 1 | |c 2018 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 15.10.2019 | ||
| 500 | |a Date Revised 15.10.2019 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Kufor-Rakeb syndrome (KRS)/PARK9 presents with autosomal recessive young onset Parkinson's disease (YOPD), spastic paraparesis, abnormal eye movements and facial myokymia. KRS is caused by homozygous/compound heterozygous inactivating mutations in ATP13A2. Two affected siblings (born to non-consanguineous Jewish parents) presenting a similar KRS phenotype (onset age 27, 23), carried compound heterozygous pathogenic variants in ATP13A2: c.217_218insG and c.3057delC. Allele frequency of the c.3057delC mutation was about 100 times higher in Ashkenazi controls in our study (1/190 = 0.00526) and in the Genome Aggregation Database, (GnomAD, 27/10132 = 0.002665) versus non-Ashkenazi controls worldwide in GnomAD (9/264566 = 0.000034018, p < 0.0001). The c.217_218insG mutation is novel and not found in controls or GnomAD. The c.3057delC mutation should be included in the genetic workup of Ashkenazi YOPD patients | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Ashkenazi | |
| 650 | 4 | |a Genetics | |
| 650 | 4 | |a Kufor-Rakeb syndrome | |
| 650 | 4 | |a PARK9 | |
| 650 | 4 | |a Parkinsonism | |
| 650 | 4 | |a Parkinson’s disease | |
| 650 | 7 | |a ATP13A2 protein, human |2 NLM | |
| 650 | 7 | |a Proton-Translocating ATPases |2 NLM | |
| 650 | 7 | |a EC 3.6.3.14 |2 NLM | |
| 700 | 1 | |a Estrada-Cuzcano, Alejandro |e verfasserin |4 aut | |
| 700 | 1 | |a Laitman, Yael |e verfasserin |4 aut | |
| 700 | 1 | |a De Vriendt, Els |e verfasserin |4 aut | |
| 700 | 1 | |a Friedman, Eitan |e verfasserin |4 aut | |
| 700 | 1 | |a Jordanova, Albena |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of Parkinson's disease |d 2016 |g 8(2018), 3 vom: 02., Seite 399-403 |w (DE-627)NLM365873039 |x 1877-718X |7 nnns |
| 773 | 1 | 8 | |g volume:8 |g year:2018 |g number:3 |g day:02 |g pages:399-403 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.3233/JPD-181360 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 8 |j 2018 |e 3 |b 02 |h 399-403 | ||