Updates on Clinical and Genetic Heterogeneity of
MCPH5
Pakistani population
founder effect
primary microcephaly
whole exome sequencing
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2021
2021
Historique:
received:
14
04
2021
accepted:
27
05
2021
entrez:
23
7
2021
pubmed:
24
7
2021
medline:
24
7
2021
Statut:
epublish
Résumé
Microcephaly (MCPH) is a genetically heterogeneous disorder characterized by non-progressive intellectual disability, small head circumference, and small brain size compared with the age- and sex-matched population. MCPH manifests as an isolated condition or part of another clinical syndrome; so far, 25 genes have been linked with MCPH. Many of these genes are reported in Pakistani population, but due to a high rate of consanguinity, a significant proportion of MCPH cohort is yet to be explored. MCPH5 is the most frequently reported type, accounting for up to 68.75% alone in a genetically constrained population like Pakistan. In the current study, whole exome sequencing (WES) was performed on probands from 10 families sampled from South Waziristan and two families from rural areas of the Pakistani Punjab. Candidate variants were validated through Sanger sequencing in all available family members. Variant filtering and
Identifiants
pubmed: 34295862
doi: 10.3389/fped.2021.695133
pmc: PMC8290066
doi:
Types de publication
Journal Article
Langues
eng
Pagination
695133Informations de copyright
Copyright © 2021 Khan, Hussain, Zheng, Khan, Masoud, Gu, Qiu, Malik, Qasim, Tariq and Chang.
Déclaration de conflit d'intérêts
CZ and QG were employed by the company Shenzhen Real Omics Biotech Co., Ltd. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Clin Genet. 2017 Jul;92(1):62-68
pubmed: 28004384
Front Neurol. 2020 Oct 15;11:570830
pubmed: 33178111
Bioinformatics. 2005 Apr 15;21(8):1730-2
pubmed: 15377505
Am J Med Genet A. 2009 May;149A(5):926-30
pubmed: 19353628
Eur J Hum Genet. 2012 May;20(5):490-7
pubmed: 22258526
Mol Genet Genomic Med. 2020 Sep;8(9):e1408
pubmed: 32677750
Front Pediatr. 2021 Feb 11;8:627122
pubmed: 33643967
Nat Genet. 2003 Mar;33 Suppl:228-37
pubmed: 12610532
Neuropediatrics. 2017 Jun;48(3):135-142
pubmed: 28399591
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Nucleic Acids Res. 1989 Oct 25;17(20):8390
pubmed: 2813076
Iran J Public Health. 2019 Nov;48(11):2074-2078
pubmed: 31970108
Hum Genome Var. 2020 Jan 6;6:56
pubmed: 31934343
J Pak Med Assoc. 2019 Dec;69(12):1812-1816
pubmed: 31853109
BMC Neurol. 2020 Feb 15;20(1):58
pubmed: 32061250
Arch Dis Child. 2013 Sep;98(9):707-13
pubmed: 23814088
Proc Natl Acad Sci U S A. 2006 Jul 5;103(27):10438-10443
pubmed: 16798874
Pediatrics. 1968 Jan;41(1):106-14
pubmed: 5635472
Transl Psychiatry. 2020 Feb 13;10(1):66
pubmed: 32066665