Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

Abstract Background 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss,...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi, Afshin Bahramy, Navid Almadani, Masoud Garshasbi
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	3MC syndrome type 3 c.128_129delCA COLEC10 p.(Thr43AsnfsTer9) Genetics QH426-470
Acceso en línea:	https://doaj.org/article/b254f6852b004605bdd1d7c988df9aa8
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:b254f6852b004605bdd1d7c988df9aa8
record_format	dspace
spelling	oai:doaj.org-article:b254f6852b004605bdd1d7c988df9aa82021-11-21T19:38:53ZWhole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 32324-926910.1002/mgg3.1834https://doaj.org/article/b254f6852b004605bdd1d7c988df9aa82021-11-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1834https://doaj.org/toc/2324-9269Abstract Background 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss, craniosynostosis, radioulnar synostosis, genital and vesicorenal anomalies, cardiac anomalies, caudal appendage, and umbilical hernia. Methods In the present study, whole‐exome sequencing was performed in order to identify disease causing variant in an Iranian 7‐year‐old affected girl with craniosynostosis, dolichocephaly, blepharoptosis, clinodactyly of the 5th finger, high myopia, long face, micrognathia, patent ductus arteriosus, downslanted palpebral fissures, telecanthus, and epicanthus inversus. Identified variant confirmation in the patient and segregation analysis in her family were performed using Sanger sequencing method. Results A novel homozygous frameshift deletion variant [NM_006438.5: c.128_129delCA; p.(Thr43AsnfsTer9)] was identified within the COLEC10 gene. Up to now, only three 3MC syndrome patients with mutations in the COLEC10 gene have been reported, and here, we report the fourth patient and the first homozygous frameshift variant. Conclusion Other genes and factors responsible for 3MC syndrome occurrence are remained to be discovered. We believe further investigation of the genes in the lectin complement pathway is needed to be done for the identification of other causes of this disease.Pouria MohammadiElham Salehi SiavashaniMohammad Farid MohammadiAfshin BahramyNavid AlmadaniMasoud GarshasbiWileyarticle3MC syndrome type 3c.128_129delCACOLEC10p.(Thr43AsnfsTer9)GeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	3MC syndrome type 3 c.128_129delCA COLEC10 p.(Thr43AsnfsTer9) Genetics QH426-470
spellingShingle	3MC syndrome type 3 c.128_129delCA COLEC10 p.(Thr43AsnfsTer9) Genetics QH426-470 Pouria Mohammadi Elham Salehi Siavashani Mohammad Farid Mohammadi Afshin Bahramy Navid Almadani Masoud Garshasbi Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
description	Abstract Background 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss, craniosynostosis, radioulnar synostosis, genital and vesicorenal anomalies, cardiac anomalies, caudal appendage, and umbilical hernia. Methods In the present study, whole‐exome sequencing was performed in order to identify disease causing variant in an Iranian 7‐year‐old affected girl with craniosynostosis, dolichocephaly, blepharoptosis, clinodactyly of the 5th finger, high myopia, long face, micrognathia, patent ductus arteriosus, downslanted palpebral fissures, telecanthus, and epicanthus inversus. Identified variant confirmation in the patient and segregation analysis in her family were performed using Sanger sequencing method. Results A novel homozygous frameshift deletion variant [NM_006438.5: c.128_129delCA; p.(Thr43AsnfsTer9)] was identified within the COLEC10 gene. Up to now, only three 3MC syndrome patients with mutations in the COLEC10 gene have been reported, and here, we report the fourth patient and the first homozygous frameshift variant. Conclusion Other genes and factors responsible for 3MC syndrome occurrence are remained to be discovered. We believe further investigation of the genes in the lectin complement pathway is needed to be done for the identification of other causes of this disease.
format	article
author	Pouria Mohammadi Elham Salehi Siavashani Mohammad Farid Mohammadi Afshin Bahramy Navid Almadani Masoud Garshasbi
author_facet	Pouria Mohammadi Elham Salehi Siavashani Mohammad Farid Mohammadi Afshin Bahramy Navid Almadani Masoud Garshasbi
author_sort	Pouria Mohammadi
title	Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
title_short	Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
title_full	Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
title_fullStr	Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
title_full_unstemmed	Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
title_sort	whole‐exome sequencing identified first homozygous frameshift variant in the colec10 gene in an iranian patient causing 3mc syndrome type 3
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/b254f6852b004605bdd1d7c988df9aa8
work_keys_str_mv	AT pouriamohammadi wholeexomesequencingidentifiedfirsthomozygousframeshiftvariantinthecolec10geneinaniranianpatientcausing3mcsyndrometype3 AT elhamsalehisiavashani wholeexomesequencingidentifiedfirsthomozygousframeshiftvariantinthecolec10geneinaniranianpatientcausing3mcsyndrometype3 AT mohammadfaridmohammadi wholeexomesequencingidentifiedfirsthomozygousframeshiftvariantinthecolec10geneinaniranianpatientcausing3mcsyndrometype3 AT afshinbahramy wholeexomesequencingidentifiedfirsthomozygousframeshiftvariantinthecolec10geneinaniranianpatientcausing3mcsyndrometype3 AT navidalmadani wholeexomesequencingidentifiedfirsthomozygousframeshiftvariantinthecolec10geneinaniranianpatientcausing3mcsyndrometype3 AT masoudgarshasbi wholeexomesequencingidentifiedfirsthomozygousframeshiftvariantinthecolec10geneinaniranianpatientcausing3mcsyndrometype3
_version_	1718418720885309440

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

Ejemplares similares