دورية أكاديمية
أعرض في EDS

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.

التفاصيل البيبلوغرافية
العنوان: A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
المؤلفون: Ali G; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan., Sadia S; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan., Ain-Ul-Batool S; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan., Azeem Z; Department of Biochemistry, Azad Jammu and Kashmir Medical College, Muzaffarabad, Pakistan., Awan NB; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan., Kazmi SAR; Department of Chemistry, Government College University, Lahore, Pakistan., Ur-Rehman Z; Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan., Anjum Z; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan., Ur-Rehman F; Department of Microbiology, Faculty of Life Sciences, University of Balochistan, Quetta, Pakistan., Wali A; Department of Biotechnology, Faculty of Life Sciences and Informatics, BUITEMS, 87100, Quetta, Pakistan., Khan K; Department of Microbiology, Faculty of Life Sciences, University of Balochistan, Quetta, Pakistan., Zaman N; Centre for Biotechnology and Microbiology University of Swat, Swat, Pakistan., Ayub M; Institute of Biochemistry, University of Balochistan, Quetta, Pakistan., Sajid M; Department of Pathology, College of Veterinary and Animal Sciences, Jhang Sub Campus of University of Veterinary and Animal Sciences Lahore, Lahore, Pakistan., Hassan N; Institute of Biochemistry, University of Balochistan, Quetta, Pakistan.
المصدر: Genetics research [Genet Res (Camb)] 2023 Oct 04; Vol. 2023, pp. 9999660. Date of Electronic Publication: 2023 Oct 04 (Print Publication: 2023).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Hindawi in collaboration with Cambridge University Press Country of Publication: England NLM ID: 101550220 Publication Model: eCollection Cited Medium: Internet ISSN: 1469-5073 (Electronic) Linking ISSN: 00166723 NLM ISO Abbreviation: Genet Res (Camb) Subsets: MEDLINE
أسماء مطبوعة: Publication: 2021- : London, United Kingdom : Hindawi in collaboration with Cambridge University Press
Original Publication: Cambridge ; New York : Cambridge University Press, c2008-
مواضيع طبية MeSH: Cleft Lip*/genetics , Cleft Lip*/complications , Ectodermal Dysplasia*/genetics , Ectodermal Dysplasia*/complications , Jaw Abnormalities*/complications , Nectins*/genetics , Syndactyly*/genetics , Syndactyly*/complications, Humans ; Alopecia/complications ; Cell Adhesion Molecules/genetics ; Codon, Nonsense/genetics ; Consanguinity ; Mutation ; Pedigree ; Phenotype ; Syndrome
مستخلص: EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.(Gln61 ∗ )) in the NECTIN4 gene. The variant segregated perfectly with the disorder within the family. The candidate variant was absent in 50 in-house exomes pertaining to other disorders from the same population. In addition to the previously reported clinical phenotype, an upper lip cleft was found in one of the affected members as a novel phenotype that is not reported by previous studies in EDSS1 patients. Therefore, the study presented here, which was conducted on the Kashmiri population, is the first to document a NECTIN4 mutation associated with the upper lip cleft as a novel phenotype. This finding broadens the molecular and phenotypic spectrum of EDSS1.
Competing Interests: The authors declare that they have no conflicts of interest.
(Copyright © 2023 Ghazanfar Ali et al.)
References: Cell Rep Methods. 2021 Jul 26;1(3):. (PMID: 34355210)
Annu Rev Cell Dev Biol. 2008;24:309-42. (PMID: 18593353)
J Cell Sci. 2012 Aug 15;125(Pt 16):3713-22. (PMID: 23027581)
Hum Genet. 2009 May;125(4):421-9. (PMID: 19221800)
Ann Hum Genet. 2015 Mar;79(2):92-8. (PMID: 25529316)
J Gene Med. 2019 Sep;21(9):e3113. (PMID: 31310406)
Nat Genet. 2001 Oct;29(2):134-6. (PMID: 11544476)
Int J Dermatol. 2018 Feb;57(2):223-226. (PMID: 29265343)
Mol Syndromol. 2017 Dec;9(1):22-24. (PMID: 29456479)
Nat Genet. 2000 Aug;25(4):427-30. (PMID: 10932188)
Int J Oncol. 2021 Nov;59(5):. (PMID: 34664682)
Nucleic Acids Res. 1993 Feb 11;21(3):781-2. (PMID: 8441704)
Bioinformatics. 2009 Jul 15;25(14):1754-60. (PMID: 19451168)
Eur J Dermatol. 2016 Dec 1;26(6):610-612. (PMID: 27456782)
Am J Med Genet A. 2019 Mar;179(3):442-447. (PMID: 30703280)
G Ital Dermatol Venereol. 2013 Feb;148(1):59-64. (PMID: 23407077)
J Hum Genet. 2011 May;56(5):352-7. (PMID: 21346770)
J Invest Dermatol. 2014 Aug;134(8):2146-2153. (PMID: 24577405)
Am J Med Genet A. 2014 Oct;164A(10):2472-7. (PMID: 24715647)
Cell Tissue Res. 2015 Jun;360(3):761-71. (PMID: 25707507)
An Bras Dermatol. 2023 Sep-Oct;98(5):580-586. (PMID: 37183149)
Genet Med. 2015 May;17(5):405-24. (PMID: 25741868)
Curr Top Dev Biol. 2015;112:197-231. (PMID: 25733141)
J Family Med Prim Care. 2018 Jan-Feb;7(1):264-266. (PMID: 29915774)
Ann Hum Genet. 2018 Jul;82(4):232-238. (PMID: 29430627)
Am J Hum Genet. 2010 Aug 13;87(2):265-73. (PMID: 20691405)
المشرفين على المادة: 0 (Cell Adhesion Molecules)
0 (Codon, Nonsense)
0 (Nectins)
0 (NECTIN4 protein, human)
تواريخ الأحداث: Date Created: 20231013 Date Completed: 20231128 Latest Revision: 20240628
رمز التحديث: 20240629
مُعرف محوري في PubMed: PMC10567209
DOI: 10.1155/2023/9999660
PMID: 37829154
قاعدة البيانات: MEDLINE
الوصف
تدمد:1469-5073
DOI:10.1155/2023/9999660