Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus.
Kallmann syndrome
X chromosome microdeletion
X-linked ichthyosis
obesity
strabismus
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2020
2020
Historique:
received:
07
02
2020
accepted:
15
05
2020
entrez:
17
7
2020
pubmed:
17
7
2020
medline:
17
7
2020
Statut:
epublish
Résumé
A large deletion in Xp22.3 can result in contiguous gene syndromes, including X-linked ichthyosis (XLI) and Kallmann syndrome (KS), presenting with short stature, chondrodysplasia punctata, intellectual disability, and strabismus. XLI and KS are caused by the deletion of Two KS patients with XLI were screened to identify possible pathogenic mutations using whole exome sequencing. The clinical characteristics, molecular genetics, treatment outcomes, and genotype-phenotype association for each patient were analyzed. We identified a novel 3,923 kb deletion within the Xp22.31 region (chrX: 5810838-9733877) containing We identified two novel microdeletions in the X chromosome leading to KS and XLI. These findings contribute to the understanding of the molecular mechanisms that drive contiguous gene syndromes. Our research confirmed that the Kallmann-Ichthyosis phenotype is caused by microdeletions at the chromosome level.
Sections du résumé
BACKGROUND
BACKGROUND
A large deletion in Xp22.3 can result in contiguous gene syndromes, including X-linked ichthyosis (XLI) and Kallmann syndrome (KS), presenting with short stature, chondrodysplasia punctata, intellectual disability, and strabismus. XLI and KS are caused by the deletion of
METHOD
METHODS
Two KS patients with XLI were screened to identify possible pathogenic mutations using whole exome sequencing. The clinical characteristics, molecular genetics, treatment outcomes, and genotype-phenotype association for each patient were analyzed.
RESULTS
RESULTS
We identified a novel 3,923 kb deletion within the Xp22.31 region (chrX: 5810838-9733877) containing
CONCLUSION
CONCLUSIONS
We identified two novel microdeletions in the X chromosome leading to KS and XLI. These findings contribute to the understanding of the molecular mechanisms that drive contiguous gene syndromes. Our research confirmed that the Kallmann-Ichthyosis phenotype is caused by microdeletions at the chromosome level.
Identifiants
pubmed: 32670353
doi: 10.3389/fgene.2020.00596
pmc: PMC7327112
doi:
Types de publication
Journal Article
Langues
eng
Pagination
596Informations de copyright
Copyright © 2020 Ma, Mao, Wang, Duan, Song, Lian, Zheng, Liu, Nie and Wu.
Références
J Intellect Disabil Res. 2007 May;51(Pt 5):329-33
pubmed: 17391250
J Dermatol Sci. 2015 May;78(2):158-60
pubmed: 25726327
Mol Cell Neurosci. 2006 Sep;33(1):2-14
pubmed: 16876430
Eur J Endocrinol. 2020 Feb;182(2):185
pubmed: 31770102
Eur J Endocrinol. 2018 Jan;178(1):23-32
pubmed: 28882981
Gene. 2000 Jan 25;242(1-2):229-35
pubmed: 10721716
Eur J Med Genet. 2008 Jan-Feb;51(1):68-73
pubmed: 18194880
Clin Genet. 1998 Jul;54(1):45-51
pubmed: 9727739
Clinics (Sao Paulo). 2013;68 Suppl 1:39-60
pubmed: 23503954
Clin Proteomics. 2014 Feb 17;11(1):6
pubmed: 24533825
Cell. 2002 Apr 19;109(2):217-28
pubmed: 12007408
Neuroendocrinology. 2011;94(3):209-17
pubmed: 21606642
Mol Cell Endocrinol. 2009 Nov 27;312(1-2):53-60
pubmed: 19464344
Cell Res. 2003 Jun;13(3):171-7
pubmed: 12862317
MMW Fortschr Med. 2014 Jun 26;156(12):40-3
pubmed: 25369684
Brief Funct Genomics. 2017 Jul 1;16(4):205-210
pubmed: 27899353
Cytogenet Genome Res. 2017;151(1):1-4
pubmed: 28253503
Anat Rec (Hoboken). 2013 Sep;296(9):1424-34
pubmed: 23904351
Clin Endocrinol (Oxf). 1995 Feb;42(2):121-8
pubmed: 7704955
Am J Hum Genet. 2013 May 2;92(5):725-43
pubmed: 23643382
Trends Endocrinol Metab. 2011 Jul;22(7):249-58
pubmed: 21511493
Case Rep Genet. 2019 Oct 27;2019:4218514
pubmed: 31781422
Hum Genet. 1994 Apr;93(4):463-6
pubmed: 8168818
J Clin Endocrinol Metab. 2008 Oct;93(10):4113-8
pubmed: 18682503
Am J Med Genet A. 2007 Jan 15;143A(2):135-41
pubmed: 17163525
J Korean Med Sci. 2012 Oct;27(10):1273-7
pubmed: 23091330
J Androl. 2009 Jan-Feb;30(1):41-5
pubmed: 18723471
Clin Genet. 1994 Sep;46(3):260-2
pubmed: 7820942
Hum Mol Genet. 2018 Jan 15;27(2):359-372
pubmed: 29202173
Hum Mol Genet. 2005 Jul 1;14(13):1795-803
pubmed: 15888481
J Med Genet. 1993 Oct;30(10):838-42
pubmed: 8230160
Am J Med Genet A. 2003 Mar 1;117A(2):164-8
pubmed: 12567415
Metabolism. 2018 Sep;86:124-134
pubmed: 29108899
Neuroscience. 2009 Jan 23;158(2):570-84
pubmed: 19013504
Elife. 2019 Jul 10;8:
pubmed: 31291191
Glia. 2014 Mar;62(3):374-86
pubmed: 24375670
Hum Genet. 1986 Mar;72(3):237-40
pubmed: 3007328
Am J Med Genet A. 2006 Mar 15;140(6):604-10
pubmed: 16470742
PLoS One. 2013 May 31;8(5):e64950
pubmed: 23741432
Am J Hum Genet. 2020 Jan 2;106(1):58-70
pubmed: 31883645
Clin Endocrinol (Oxf). 1998 Jun;48(6):713-8
pubmed: 9713559
EMBO Mol Med. 2017 Oct;9(10):1379-1397
pubmed: 28754744
Hum Mol Genet. 2017 Jun 1;26(11):2006-2017
pubmed: 28334861
Andrologia. 2015 Dec;47(10):1160-5
pubmed: 25597551
Br J Dermatol. 2008 Mar;158(3):483-6
pubmed: 18076704
Endocr Rev. 2016 Feb;2016(1):4-22
pubmed: 27454361
Neuroendocrinology. 2020 Feb 20;:
pubmed: 32074614
Clin Endocrinol (Oxf). 1999 Feb;50(2):157-62
pubmed: 10396356
Exp Neurol. 2010 Apr;222(2):285-95
pubmed: 20083104
Indian Pediatr. 2007 Apr;44(4):301-3
pubmed: 17468528
Hum Mol Genet. 2005 Nov 1;14(21):3203-17
pubmed: 16174644
J Clin Endocrinol Metab. 2020 Mar 1;105(3):
pubmed: 31628846
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):349-52
pubmed: 27264819
J Dermatol. 2016 Mar;43(3):242-51
pubmed: 26945532
Hum Mol Genet. 2013 Sep 15;22(18):3749-60
pubmed: 23710042
Biol Psychiatry. 2009 Nov 15;66(10):906-10
pubmed: 19545860
Eur J Endocrinol. 2018 Mar;178(3):R55-R80
pubmed: 29330225
Gene. 2013 Sep 25;527(2):578-83
pubmed: 23791652
Nat Rev Endocrinol. 2015 Sep;11(9):547-64
pubmed: 26194704
J Neurol Sci. 2010 May 15;292(1-2):40-4
pubmed: 20211475
Brain Struct Funct. 2016 Apr;221(3):1365-85
pubmed: 25662897
Cell. 1995 Apr 7;81(1):15-25
pubmed: 7720070
Endocr Rev. 2019 Apr 1;40(2):669-710
pubmed: 30698671
Adv Neurobiol. 2014;8:273-92
pubmed: 25300141
Nat Genet. 2003 Apr;33(4):463-5
pubmed: 12627230
Brain Struct Funct. 2016 Jan;221(1):239-60
pubmed: 25300351
Endocrinol Diabetes Metab Case Rep. 2017 Sep 28;2017:
pubmed: 30352392
J Neurochem. 2013 Mar;124(5):708-20
pubmed: 23189990
J Endocrinol. 2005 Dec;187(3):361-8
pubmed: 16423815