Novel
ABCD1 protein, human
RAB3GAP1 protein, human
Warburg Micro syndrome
mutation
whole exome sequencing
Journal
Journal of clinical neurology (Seoul, Korea)
ISSN: 1738-6586
Titre abrégé: J Clin Neurol
Pays: Korea (South)
ID NLM: 101252374
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
received:
21
05
2021
revised:
24
08
2021
accepted:
24
08
2021
pubmed:
24
2
2022
medline:
24
2
2022
entrez:
23
2
2022
Statut:
ppublish
Résumé
Warburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused by mutations in We applied whole-exome sequencing (WES) to two affected young males presenting a WARBM-compatible phenotype. We reveal a new variation in WES analysis of a consanguineous Tunisian family with WARBM revealed a novel variation in
Sections du résumé
BACKGROUND AND PURPOSE
OBJECTIVE
Warburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused by mutations in
METHODS
METHODS
We applied whole-exome sequencing (WES) to two affected young males presenting a WARBM-compatible phenotype.
RESULTS
RESULTS
We reveal a new variation in
CONCLUSIONS
CONCLUSIONS
WES analysis of a consanguineous Tunisian family with WARBM revealed a novel variation in
Identifiants
pubmed: 35196747
doi: 10.3988/jcn.2022.18.2.214
pii: 18.e2
pmc: PMC8926778
doi:
Types de publication
Journal Article
Langues
eng
Pagination
214-222Informations de copyright
Copyright © 2022 Korean Neurological Association.
Déclaration de conflit d'intérêts
The authors have no potential conflicts of interest to disclose.
Références
Dis Model Mech. 2014 Jun;7(6):711-22
pubmed: 24764192
Hum Mutat. 2018 Nov;39(11):1517-1524
pubmed: 30192042
Physiol Rev. 2011 Jan;91(1):119-49
pubmed: 21248164
Eur J Hum Genet. 2010 Oct;18(10):1100-6
pubmed: 20512159
Nucleic Acids Res. 2020 Jan 8;48(D1):D265-D268
pubmed: 31777944
Eur J Pediatr. 1988 Jun;147(5):539-43
pubmed: 3409931
Hum Mutat. 2014 Jan;35(1):45-9
pubmed: 24108619
J Med Genet. 1989 Jun;26(6):397-400
pubmed: 2738902
Hum Mutat. 2013 Jan;34(1):57-65
pubmed: 23033316
Hum Genet. 2011 Jan;129(1):45-50
pubmed: 20967465
Genet Couns. 2007;18(1):71-5
pubmed: 17515302
Int J Dev Neurosci. 2020 Feb;80(1):52-72
pubmed: 31909500
J Med Genet. 1985 Aug;22(4):308-10
pubmed: 4045961
Am J Med Genet A. 2019 Apr;179(4):579-587
pubmed: 30730599
Genet Couns. 2007;18(4):423-35
pubmed: 18286824
Eur J Pediatr. 2008 Jul;167(7):723-9
pubmed: 18463892
Nucleic Acids Res. 2016 Jan 4;44(D1):D7-19
pubmed: 26615191
Clin Genet. 2020 Nov;98(5):445-456
pubmed: 32740904
Clin Dysmorphol. 1999 Oct;8(4):241-5
pubmed: 10532171
Am J Med Genet A. 2007 May 1;143A(9):973-8
pubmed: 17394201
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Open Biol. 2015 Jun;5(6):150047
pubmed: 26063829
Nucleic Acids Res. 2003 Jul 1;31(13):3568-71
pubmed: 12824367
J Med Genet. 1988 Apr;25(4):267-9
pubmed: 2896798
J Med Genet. 1999 Aug;36(8):637-40
pubmed: 10465117
Mol Biol Cell. 2008 Nov;19(11):4762-75
pubmed: 18768753
Clin Dysmorphol. 2007 Apr;16(2):89-93
pubmed: 17351351
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Hum Mutat. 2016 May;37(5):439-46
pubmed: 26842889
Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):10029-34
pubmed: 16782817
Am J Med Genet A. 2004 Jul 30;128A(3):235-45
pubmed: 15216543
Genet Couns. 2012;23(2):169-74
pubmed: 22876574
PLoS One. 2012;7(10):e46688
pubmed: 23056405
Nat Methods. 2012 Mar 04;9(4):357-9
pubmed: 22388286
Nucleic Acids Res. 2018 Jul 2;46(W1):W545-W553
pubmed: 29860484
Am J Hum Genet. 2013 Dec 5;93(6):1001-14
pubmed: 24239381
Genet Couns. 2015;26(4):415-23
pubmed: 26852512
J Biol Chem. 2000 Oct 13;275(41):31786-91
pubmed: 10859313
Brain Dev. 2016 Mar;38(3):337-40
pubmed: 26421802
Am J Med Genet. 1978;1(3):291-9
pubmed: 677168
Am J Hum Genet. 2011 Apr 8;88(4):499-507
pubmed: 21473985
Ophthalmology. 2001 Mar;108(3):491-7
pubmed: 11237903
Bioinformatics. 2015 Mar 1;31(5):761-3
pubmed: 25338716
Am J Med Genet A. 2004 Jul 30;128A(3):232-4
pubmed: 15216542
Nat Methods. 2014 Apr;11(4):361-2
pubmed: 24681721
Nat Genet. 2014 Mar;46(3):310-5
pubmed: 24487276
Oxf Med Case Reports. 2020 May 23;2020(4):omaa031
pubmed: 32477580
Hum Genome Var. 2015 Sep 17;2:15034
pubmed: 27081543
Autophagy. 2014;10(12):2297-309
pubmed: 25495476
Indian J Pediatr. 2016 Mar;83(3):258-60
pubmed: 26138576
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
Hum Mutat. 2009 Aug;30(8):1237-44
pubmed: 19514061
Nat Biotechnol. 2011 Jan;29(1):24-6
pubmed: 21221095
Nucleic Acids Res. 2009 May;37(9):e67
pubmed: 19339519
BMC Med Genomics. 2016 Feb 04;9:7
pubmed: 26846091
J Biol Chem. 1998 Sep 18;273(38):24781-5
pubmed: 9733780
PLoS Comput Biol. 2014 Jan;10(1):e1003440
pubmed: 24453961
Folia Neuropathol. 2016;54(3):273-281
pubmed: 27764520
Bioinformatics. 2015 May 15;31(10):1536-43
pubmed: 25583119
J Pediatr Endocrinol Metab. 2012;25(3-4):379-82
pubmed: 22768674
J Cell Biol. 2014 Jun 9;205(5):707-20
pubmed: 24891604
Ophthalmology. 2014 Nov;121(11):2124-37.e1-2
pubmed: 25148791
Hum Mutat. 2013 May;34(5):686-96
pubmed: 23420520
Am J Dis Child. 1993 Dec;147(12):1309-12
pubmed: 8249951
Am J Med Genet A. 2016 Jul;170(7):1843-8
pubmed: 27256633
Nat Genet. 2005 Mar;37(3):221-3
pubmed: 15696165
J Biol Chem. 1997 Feb 21;272(8):4655-8
pubmed: 9030515
Int J Cardiol. 2016 Nov 15;223:374-378
pubmed: 27543713
Orphanet J Rare Dis. 2014 Oct 21;9:113
pubmed: 25332050
Orphanet J Rare Dis. 2012 Aug 13;7:51
pubmed: 22889154
J Pediatr Neurosci. 2017 Oct-Dec;12(4):360-362
pubmed: 29675078
Am J Hum Genet. 2006 Apr;78(4):702-7
pubmed: 16532399