A Missense Variant in

Humans Intellectual Disability / genetics Mutation, Missense Ubiquitin-Protein Ligases / genetics Male Female Epilepsy / genetics Pakistan Muscle Spasticity / genetics Pedigree Psychomotor Disorders / genetics Child Child, Preschool
NDD autosomal recessive epilepsy exome sequencing intellectual disability

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
02 May 2024
Historique:
received: 01 04 2024
revised: 19 04 2024
accepted: 23 04 2024
medline: 25 5 2024
pubmed: 25 5 2024
entrez: 25 5 2024
Statut: epublish

Résumé

Intellectual disability (ID), which affects around 2% to 3% of the population, accounts for 0.63% of the overall prevalence of neurodevelopmental disorders (NDD). ID is characterized by limitations in a person's intellectual and adaptive functioning, and is caused by pathogenic variants in more than 1000 genes. Here, we report a rare missense variant (c.350T>C; p.(Leu117Ser)) in

Identifiants

DOI: 10.3390/genes15050580 PMID: 38790209
pubmed: 38790209
pii: genes15050580
doi: 10.3390/genes15050580
pii:
doi:

Substances chimiques

Ubiquitin-Protein Ligases EC 2.3.2.27
HACE1 protein, human EC 2.3.2.26

Types de publication

Journal Article Case Reports

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NINDS NIH HHS
ID : R01NS107428
Pays : United States

Auteurs

Muhammad A Usmani (MA)

Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore 54550, Pakistan.
ORCID: 0009-0009-1441-5091

Amama Ghaffar (A)

Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Center of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.

Mohsin Shahzad (M)

Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.

Javed Akram (J)

Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.

Aisha I Majeed (AI)

Department of Radiology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.

Kausar Malik (K)

Center of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.

Khushbakht Fatima (K)

Department of Applied Health Sciences, University of Management and Technology, Lahore 54500, Pakistan.

Asma A Khan (AA)

Center of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.

Zubair M Ahmed (ZM)

Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Department of Molecular Biology and Biochemistry, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
ORCID: 0000-0003-2914-4502

Sheikh Riazuddin (S)

Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore 54550, Pakistan.
ORCID: 0000-0001-6012-0192

Saima Riazuddin (S)

Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Center of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.
Department of Molecular Biology and Biochemistry, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A Missense Variant in
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › A Missense Variant in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › A Missense Variant in
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Ligases › Ubiquitin-protein ligase complexes › Ubiquitin-protein ligases › A Missense Variant in
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › A Missense Variant in
questionsmedicales.fr › Régions géographiques › Asie › Asie de l'Ouest › Asie du Sud › Pakistan › A Missense Variant in
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Manifestations neuromusculaires › Hypertonie musculaire › Spasticité musculaire › A Missense Variant in
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › A Missense Variant in
questionsmedicales.fr › Comportement et mécanismes comportementaux › Manifestations neurocomportementales › Troubles psychomoteurs › A Missense Variant in
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › A Missense Variant in
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › A Missense Variant in