Phelan-McDermid syndrome: a case report and review of the literature

Autor: Osama Yousef Muthaffar, Anas Saeed Alyazidi

Publikováno v: Journal of Biochemical and Clinical Genetics, Vol 5, Iss 2, Pp 053-058 (2022)

Background: Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a heterozygous deletion in chromosome 22 in the 22q13 region or by a heterozygous pathogenic variant in SHANK3 gene. PMS is one of the important etiologies in children p

Externí odkaz: https://doaj.org/article/3c09cee5cae54292ab1c3e93e75fe7a6

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families

Autor: Angham Abdulrhman Abdulkareem, Qaiser Zaman, Hamza Khan, Sabar Khan, Gauhar Rehman, Nabeel Tariq, Mashal Ahmad, Muhammad Owais, Najumuddin, Osama Yousef Muthaffar, Fehmida Bibi, Rin Khang, Seung Woo Ryu, Muhammad Imran Naseer, Musharraf Jelani

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Introduction: Epilepsy is a group of neurological disorders characterized by recurring seizures and fits. The Epilepsy genes can be classified into four distinct groups, based on involvement of these genes in different pathways leading to Epilepsy as

Externí odkaz: https://doaj.org/article/2e66ba6d0780467cb8b60eeb7baef791

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly

Autor: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Osama Yousef Muthaffar, Sameera Sogaty, Hiba Alkhatabi, Sarah Almaghrabi, Adeel G. Chaudhary

Publikováno v: Frontiers in Pediatrics, Vol 8 (2021)

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental defect that is characterized by reduced head circumference at birth along with non-progressive intellectual disability. Till date, 25 genes related to MCPH have been reported so

Externí odkaz: https://doaj.org/article/6a65631b3f314ae18ee7a9b60daf7005

A Novel Homozygous Nonsense Variant in the DΥM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

Autor: Abu Bakar, Sulaiman Shams, Nousheen Bibi, Asmat Ullah, Wasim Ahmad, Musharraf Jelani, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Turki S. Abujamel, Absarul Haque, Muhammad Imran Naseer, Bushra Khan

Publikováno v: Bakar, A, Shams, S, Bibi, N, Ullah, A, Ahmad, W, Jelani, M, Muthaffar, O Y, Abdulkareem, A A, Abujamel, T S, Haque, A, Naseer, M I & Khan, B 2023, ' A Novel Homozygous Nonsense Variant in the DΥM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family ', Genes, vol. 14, 510 . https://doi.org/10.3390/genes14020510
Genes
Volume 14
Issue 2
Pages: 510

(1) Background: Dyggve-Melchior-Clausen Syndrome is a skeletal dysplasia caused by a defect in the DYM gene (OMIM number 607461). Pathogenic variants in the gene have been reported to cause Dyggve-Melchior-Clausen (DMC; OMIM 223800) dysplasia and Smi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f08dc25dd18e28f63f122eac632d9672
https://curis.ku.dk/ws/files/339624015/genes_14_00510_v2.pdf

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases

Autor: Qaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, Gauhar Rehman, Hamza Khan, Mehwish Rehman, null Najumuddin, Ilyas Ahmad, Muhmmad Tariq, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Muhammad Imran Naseer, Muhammad Shah Faisal, Naveed Wasif, Musharraf Jelani

Publikováno v: Genes
Volume 14
Issue 2
Pages: 328

Charcot–Marie–Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix–Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c20f697f8f4eb1f1657c136fcefd409
https://doi.org/10.3390/genes14020328