Cargando…

Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families

BACKGROUND: Intellectual disability (ID) is a heterogeneous group of neurodevelopmental disorders that is characterized by significant impairment in intellectual and adaptive functioning with onset during the developmental period. Whole‐exome sequencing (WES)‐based studies in the consanguineous fami...

Descripción completa

Detalles Bibliográficos
Autores principales:	Moudi, Mahdiyeh, Vahidi Mehrjardi, Mohammad Yahya, Hozhabri, Hossein, Metanat, Zahra, Kalantar, Seyed Mehdi, Taheri, Mohsen, Ghasemi, Nasrin, Dehghani, Mohammadreza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842163/ https://www.ncbi.nlm.nih.gov/pubmed/35019165 http://dx.doi.org/10.1002/jcla.24241

Ejemplares similares

A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families
por: Dehghani, Mohammadreza, et al.
Publicado: (2017)

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
por: Ilyas, Muhammad, et al.
Publicado: (2020)

Genetics of autosomal recessive intellectual disability
por: Jamra, Rami
Publicado: (2018)

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
por: Khan, Muzammil Ahmad, et al.
Publicado: (2011)

Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report
por: VAHIDI MEHRJARDI, Mohammad Yahya, et al.
Publicado: (2016)

Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family
por: Karim, Noreen, et al.
Publicado: (2019)

A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)
por: Dehghan Tezerjani, Masoud, et al.
Publicado: (2020)

Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia
por: Yang, Zhikuan, et al.
Publicado: (2009)

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
por: Yasmeen, Afshan, et al.
Publicado: (2010)

Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
por: ten Kate, Leo P., et al.
Publicado: (2010)

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
por: Kaul, Haiba, et al.
Publicado: (2010)

Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)
por: Abbas, Seyyedha, et al.
Publicado: (2014)

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family
por: Jiao, Xiaodong, et al.
Publicado: (2019)

Plasma miR‐21 as a potential predictor in prediabetic individuals with a positive family history of type 2 diabetes mellitus
por: Yazdanpanah, Zakieh, et al.
Publicado: (2022)

Is there any relationship between mutation in CPS1 Gene and pregnancy loss?
por: Talebi, Mehrdad, et al.
Publicado: (2019)

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
por: Hollstein, Ronja, et al.
Publicado: (2015)

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families
por: Li, Lin, et al.
Publicado: (2017)

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa
por: Ali, Shahbaz, et al.
Publicado: (2011)

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents
por: Wierenga, Klaas J., et al.
Publicado: (2013)

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy
por: Nikopoulos, Konstantinos, et al.
Publicado: (2015)

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
por: Hancarova, Miroslava, et al.
Publicado: (2019)

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycanopathies
por: Maroofian, Reza, et al.
Publicado: (2017)

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
por: Riazuddin, S, et al.
Publicado: (2016)

A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
por: Nazari, Majid, et al.
Publicado: (2019)

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
por: Mattioli, Francesca, et al.
Publicado: (2021)

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family
por: Anjum, Iram, et al.
Publicado: (2010)

Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity
por: Kleyner, Robert, et al.
Publicado: (2022)

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
por: Xu, Wei, et al.
Publicado: (2023)

METAP1 Mutation Is a Novel Candidate for Autosomal Recessive Intellectual Disability
por: Caglayan, Ahmet Okay, et al.
Publicado: (2020)

Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family
por: Yang, Shi-Lin, et al.
Publicado: (2020)

Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa
por: Paterson, Rachel L., et al.
Publicado: (2012)

A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family
por: Darbari, Ensieh, et al.
Publicado: (2020)

A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
por: Yousaf, Hammad, et al.
Publicado: (2022)

Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples — an evaluation of the 86 genes of the ACMG ‘Tier 3’ panel
por: Schmidtke, Jörg, et al.
Publicado: (2022)

A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability
por: Muthusamy, Babylakshmi, et al.
Publicado: (2020)

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
por: Ravindran, Ethiraj, et al.
Publicado: (2022)

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy
por: Hasan, Mahpara, et al.
Publicado: (2022)

Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern
por: Morovvati, Saeid, et al.
Publicado: (2012)

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features
por: Zaki, Maha S., et al.
Publicado: (2021)

A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy
por: Ni, Min, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_eq9sf1gp8mmlkvuuh5r3t3jvmr