Article
Genetics & Heredity
Francesca Andreoni, Claudia Sgattoni, Daniela Bencardino, Oriana Simonetti, Antonino Forabosco, Mauro Magnani
Summary: The study identified variants in the EDA, EDAR, and EDARADD genes related to HED and tooth agenesis in two families. A novel missense variant in EDAR was found to cause autosomal dominant HED, while a previously described genetic variant in EDA confirmed its role in X-linked HED. The findings highlight variable expressions of HED in heterozygous females and different modes of inheritance related to tooth development.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Genetics & Heredity
Francesca Andreoni, Claudia Sgattoni, Daniela Bencardino, Oriana Simonetti, Antonino Forabosco, Mauro Magnani
Summary: The study identified a novel missense variant in the EDAR gene leading to autosomal dominant HED in one family, while the previously described genetic variant in the EDA gene confirmed its role in X-linked HED in another family. The inheritance model of the missense mutation showed different relationships with X-linked HED and non-syndromic tooth agenesis.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Dermatology
Nobuyuki Asano, Shuichiro Yasuno, Ryota Hayashi, Yutaka Shimomura
Summary: This study identified that certain mutations in the EDARADD gene can lead to reduced NF-κB activity and exert dominant negative effects, providing insights into the molecular mechanisms underlying the disease.
JOURNAL OF DERMATOLOGY
(2021)
Article
Genetics & Heredity
Hoda A. Ahmed, Ghada Y. El-Kamah, Eman Rabie, Mostafa Mostafa, Maha R. Abouzaid, Nehal F. Hassib, Mennat Mehrez, Mohamed A. Abdel-Kader, Yasmine H. Mohsen, Suher K. Zada, Khalda S. Amr, Inas S. M. Sayed
Summary: Ectodermal dysplasia (ED) is a group of genetic disorders affecting structures derived from the ectoderm, with the most common phenotype being hypohidrotic/anhidrotic ectodermal dysplasia (HED) characterized by sparse hair, lack of sweat glands, and missing teeth. Molecular diagnosis is crucial for disease management, and the use of targeted next generation sequencing has allowed for the identification of genetic heterogeneity, variable expressivity, and intrafamilial phenotypic variability in ED patients.
Article
Dermatology
Sasagu Yagi, Shuichiro Yasuno, Osamu Ansai, Ryota Hayashi, Yutaka Shimomura
Summary: Hypohidrotic ectodermal dysplasia is a rare condition characterized by reduced sweating, missing teeth, and sparse hair. In this study, in vitro experiments revealed that the degree of loss-of-function varied among different mutant EDAR proteins associated with autosomal forms, which may be correlated with the severity of the disease.
JOURNAL OF DERMATOLOGY
(2023)
Review
Genetics & Heredity
Yanzi Gao, Xiaohui Jiang, Zhi Wei, Hu Long, Wenli Lai
Summary: Non-syndromic tooth agenesis (NSTA) is a common dental developmental malformation affected by genetic factors. The EDA, EDAR, and EDARADD genes in the EDA/EDAR/NF-κB signaling pathway have been found to play essential roles in the pathogenesis of NSTA. This review provides an overview of the genetic basis of NSTA and highlights the importance of genetic analysis in diagnosing and managing NSTA and related ectodermal disorders.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Xingyu Liu, Yuming Zhao, Junxia Zhu
Summary: A novel mutation (c.593G > A, p. Gly198Glu) in the collagen domain of EDA was identified, which impairs the receptor-binding activity of EDA and the transcriptional activity of NF-kappa B, leading to HED.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Genetics & Heredity
Yupei Wang, Chuan Zhang, Bingbo Zhou, Ling Hui, Lei Zheng, Xue Chen, Shifan Wang, Lan Yang, Shengju Hao, Qinghua Zhang
Summary: This study identified three variations in the EDA gene, all affecting the structure of exon 1. Experimental analysis of a splicing variant (c.396 + 1 G > C) showed that it leads to a prolonged EDA-A1 transcript in vitro. Additionally, chromosomal microarray analysis confirmed a novel deletion variant in exon 1.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, General & Internal
Zainab S. Gilitwala, Shalmali R. Satpute
Summary: Hypohidrotic ectodermal dysplasia (HED) is a genetic condition that affects the development of the skin, hair, and teeth. We present a case of a 2-month-old male infant with a family history of ectodermal dysplasia. By sharing this case, we aim to raise awareness about the importance of timely detection, diagnosis, and treatment of this condition.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Medicine, General & Internal
Haochen Liu, Lanxin Su, Hangbo Liu, Jinglei Zheng, Hailan Feng, Yang Liu, Miao Yu, Dong Han
Summary: This study identified pathogenic gene variants in female patients with severe XLHED and found that these variants might cause structural damage to EDA proteins. It also discovered differences in X-chromosome inactivation, which could assist with clinical diagnosis, treatment, and genetic counseling.
Article
Medicine, General & Internal
Syed Asfand Yar Shah, Wajih Ul Hassan, Waseem Sajjad, Usama Bin Shabbir, Ali Raza
Summary: Ectodermal dysplasias are a group of inherited disorders that affect multiple ectodermally derived structures, such as hair, sweat glands, teeth, and nails. The manifestation of these diseases varies among patients based on the combination and severity of abnormalities.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Medicine, General & Internal
Humaira Shamim, Sumera Hanif
Summary: Ectodermal dysplasia (ED) is a rare genetic disorder that affects various ectoderm-derived tissues and organs. This case report discusses a rare association of clubbing with hypohidrotic ectodermal dysplasia (HED) and emphasizes the need for a multidisciplinary approach for managing ED.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Review
Pediatrics
Michele Callea, Stefano Bignotti, Francesco Semeraro, Francisco Cammarata-Scalisi, Jinia El-Feghaly, Antonino Morabito, Vito Romano, Colin E. Willoughby
Summary: Ectodermal dysplasias (EDs) are a group of inherited developmental disorders that affect tissues of ectodermal origin. The most common form, hypohidrotic ectodermal dysplasia (HED), is characterized by missing teeth, hair loss, and lack of sweat glands. HED can also cause ocular symptoms, such as eyelash loss, dry eye symptoms, and potential complications like corneal ulceration and glaucoma.
Article
Pediatrics
Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffre, Giovanni Corsello
Summary: Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder affecting structures of ectodermal origin, with X-linked HED being the most common form. A male newborn was reported with clinical features of X-linked HED, including hypotrichosis, hypodontia, and hypohidrosis. Gene panel sequencing revealed a new hemizygous missense variant of uncertain significance in the EDA gene on the X chromosome inherited from the mother. Further research is needed to confirm the potential effects of this novel variant on the development of HED.
ITALIAN JOURNAL OF PEDIATRICS
(2021)
Review
Genetics & Heredity
Marina Cerezo-Cayuelas, Amparo Perez-Silva, Clara Serna-Munoz, Ascension Vicente, Yolanda Martinez-Beneyto, Inmaculada Cabello-Malagon, Antonio Jose Ortiz-Ruiz
Summary: This systematic review aimed to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia. The findings suggest that there is a lack of studies with high scientific evidence to determine the best treatment for these patients.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Genetics & Heredity
Syeda Ain Ul Batool, Ahmad Almatrafi, Fatima Fadhli, Majed Alluqmani, Sadia, Ghazanfar Ali, Sulman Basit
Summary: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by epileptic seizures, macrocephaly, and brain abnormalities. A study on a six-generation family with MLC clinical features identified a homozygous missense variant in the MLC1 gene, suggesting a potential genetic cause for the disorder.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Dermatology
Rubab Raza, Asmat Ullah, Nighat Haider, Jai Krishin, Muqadar Shah, Fati Ullah Khan, Abdullah, Torben Hansen, Syed Irfan Raza, Wasim Ahmad, Sulman Basit
Summary: This study aimed to investigate the clinical and genetic basis of autosomal recessive hypertrichosis in a large consanguineous Pakistani family. A novel 2-bp intragenic deletion causing a frameshift variant in ABCA5 was identified through whole exome sequencing followed by Sanger sequencing.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Syeda Farwa Naqvi, Rana Muhammad Kamran Shabbir, Aslihan Tolun, Sulman Basit, Sajid Malik
Summary: This study aimed to investigate the genetic basis of autosomal recessive primary microcephaly (MCPH) and conduct a descriptive review of ASPM mutations. A rare frameshift deletion in ASPM was detected, and a total of 215 ASPM mutations were reported, with nearly 50% originating from Pakistan.
GENETIC TESTING AND MOLECULAR BIOMARKERS
(2022)
Article
Optics
Tahira Batool, Aly R. Seadawy, Syed T. R. Rizvi, Syed K. Naqvi
Summary: This paper investigates various types of solutions for the Radhakrishnan-Kundu-Lakshmanan equation (RKLE), including M-shaped rational solutions with kinks, homoclinic breathers, multi-waves, periodic cross-kink solutions, and kink-cross rational solutions. The study demonstrates the graphical representations of these solutions.
JOURNAL OF NONLINEAR OPTICAL PHYSICS & MATERIALS
(2023)
Article
Engineering, Electrical & Electronic
Syed T. R. Rizvi, Aly R. Seadawy, Syed K. Naqvi, Syed Oan Abbas
Summary: This paper investigates various forms of analytical solutions for the mixed derivative nonlinear Schrodinger equation (MD-NLSE), which is extensively used in optical fiber. The aim of this study is to obtain analytic lump solutions, lump solutions with one kink, rogue waves, periodic waves, and multi-wave solutions for the governing model. The interaction between periodic and lump solutions, breather waves (localized periodic wave solutions), generalized breathers, Ma-breathers, and Kuznetsov-Ma-breathers and their corresponding rogue waves are also discussed. Finally, the dynamical behavior of the solutions is presented in graphs in various dimensions.
OPTICAL AND QUANTUM ELECTRONICS
(2023)
Article
Veterinary Sciences
Nazeer Hussain, Rana Muhammad Kamran Shabbir, Haroon Ahmed, Muhammad Sohail Afzal, Shafi Ullah, Abid Ali, Shumaila Irum, Syed Kamran-ul-Hassan Naqvi, Jianhai Yin, Jianping Cao
Summary: Ticks are abundant in different agro-ecological zones of Pakistan and parasitize a variety of animals, including livestock and their associated canines and equines. This study identified 11 tick species belonging to 4 genera and examined the tick infestation rate among different hosts and zones. The overall tick prevalence was 14.3% and varied among different animals and zones.
FRONTIERS IN VETERINARY SCIENCE
(2023)
Editorial Material
Pediatrics
Hamadia Jan, Naveed Wasif, Syed Kamran-ul-Hassan Naqvi, Imran Ullah, Wasim Ahmad
CONGENITAL ANOMALIES
(2023)
Article
Biotechnology & Applied Microbiology
Shazia Khan, Muhammad Umair, Safdar Abbas, Uroba Ali, Gohar Zaman, Muhammad Ansar, Rongrong Wang, Xue Zhang, Henry Houlden, Gaurav V. Harlalka, Asma Gul
Summary: This study identified two novel biallelic variants in the CNTNAP1 and ADGRG1 genes in two different consanguineous families, expanding the clinical and mutation spectrum of these genes and providing further evidence of their importance in neurological development.
JOURNAL OF GENE MEDICINE
(2023)
Article
Veterinary Sciences
Sajida Riaz, Haroon Ahmed, Sana Azeem Kiani, Muhammad Sohail Afzal, Sami Simsek, Figen Celik, Samia Wasif, Nazneen Bangash, Syed Kamran Naqvi, Jing Zhang, Jianping Cao
Summary: This study investigated the knowledge, attitudes, and practices related to schistosomiasis and fascioliasis among individuals living in close contact with livestock and pets in Pakistan. The majority of participants had good knowledge and a positive attitude towards these two diseases, but lacked awareness about snails as intermediate hosts.
FRONTIERS IN VETERINARY SCIENCE
(2023)
Article
Biotechnology & Applied Microbiology
Warda Akbar, Asmat Ullah, Nighat Haider, Sufyan Suleman, Fati Ullah Khan, Abid Ali Shah, Muhammad Atif Sikandar, Sulman Basit, Wasim Ahmad
Summary: This study investigated the genetic causes of syndromic anophthalmia in a Pakistani family. The researchers identified novel mutations in the FOXE3 and AP4M1 genes as the cause of the disease. These findings are significant for understanding the pathological role of these gene mutations and have implications for prenatal testing and genetic counseling.
JOURNAL OF GENE MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Rania Magadmi, Reem Alyoubi, Tahani Moshrif, Duaa Bakhshwin, Bandar A. Suliman, Fatemah Kamel, Maha Jamal, Abdulhadi S. Burzangi, Sulman Basit
Summary: This study investigated the association between single-nucleotide polymorphisms (SNPs) of the ABCB1 gene and the response to anti-seizure medications in Saudi pediatric epileptic patients. The results showed a significant association between the rs1045642 and rs2032582 variants and patient responsiveness. Despite the small sample size, the study highlights the importance of personalized treatment for epileptic patients.
Article
Biochemistry & Molecular Biology
Ahmad M. Almatrafi, Majed M. Alluqmani, Sulman Basit
Summary: This study investigated a large family with patients experiencing muscle fatigue and weakness. A mutation in the CHRNE gene was identified, and personalized treatment resulted in significant improvement in symptoms. The mutation expands the phenotypic symptoms associated with the CHRNE gene.
Article
Medicine, General & Internal
Asmat Ullah, Abid Ali Shah, Fibhaa Syed, Arif Mahmood, Hassan Ur Rehman, Beenish Khurshid, Abdus Samad, Wasim Ahmad, Sulman Basit
Summary: Mutations in the CYB5R3 gene are responsible for recessive congenital methemoglobinemia, resulting in elevated methemoglobin levels causing cyanosis and, in some cases, neurological complications. This study identified a novel mutation in the CYB5R3 gene and expanded the understanding of its variant spectrum, providing a basis for genetic counseling for affected individuals and families.
MEDICINA-LITHUANIA
(2023)
Article
Medicine, Research & Experimental
Saba Bibi, Muhammad Kamran, Haroon Ahmad, Kainat Bibi, Syed Kamran Ul Hassan Naqvi, Qingqiu Zuo, Naseer Ali Shah, Jianping Cao
Summary: This study assessed the knowledge, attitudes, and practices of taeniasis among rural and urban communities in Rawalpindi and Islamabad, Pakistan. The results showed that most respondents had little knowledge about the disease but were willing to participate in elimination campaigns. The respondents took some preventive measures when cooking, and these practices were associated with factors such as age, income, and residency.
Article
Genetics & Heredity
Asmat Ullah, Jai Krishin, Nighat Haider, Brekhna Aurangzeb, Abdullah, Sufyan Suleman, Wasim Ahmad, Torben Hansen, Sulman Basit
Summary: This study reports a novel loss of function mutation in the EXOC8 gene that is associated with neurodevelopmental disorder. Clinical phenotyping and whole exome sequencing revealed a protein-truncating variant in affected individuals. These findings contribute to the understanding of genotype-phenotype correlations and have implications for genetic counseling and clinical management.