PSYCHOSOCIAL ILLNESS IN CHILDREN WITH THALASSEMIA: A CASE-CONTROL STUDY by Erum Afzal, Muhammad Aslam Sheikh, Sajjad Hussain Bhaba, Tanveer Ahmed, Imran Iqbal, Muhammad Khalid Iqbal

“… INTRODUCTION: Thalassemia is the most common hemolytic autosomal recessive disorder. Pakistan has significant number of thalassemic children .The children with chronic disorders like thalassemia are prone to develop psychosocial illness including depression, anxiety, intellectual and behavioral issues.  …”
Get full text

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis by Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki

“…ABSTRACT Background Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. …”
Get full text

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria by Hewa Warawitage Dilanthi, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, Neluwa Liyanage Ruwan Indika, Matara Mahavidanage Nishani De Silva, Imalke Kankananarachchi, Pushpa Malkanthi Gardiye Punchihewa, Dharma Irugalbandara, Sabine Schroeder, Kosala Karunaratne, Eresha Jasinge

“…ABSTRACT Homocystinuria due to cystathionine beta‐synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. Spectrum of genetic variants in CBS gene and their correlation with the phenotypes of homocystinuria in Sri Lankan patients have not been reported to date. …”
Get full text

TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation by Liubov O. Skorodumova, Ekaterina N. Grafskaia, Daria D. Kharlampieva, Dmitry I. Maltsev, Tatiana V. Petrova, Alexandra V. Kanygina, Elena V. Fedoseeva, Pavel V. Makarov, Boris E. Malyugin

“…Abstract Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive eye disease. GDLD is characterized by the loss of barrier function in corneal epithelial cells (CECs) and amyloid deposition due to pathogenic variants in the TACSTD2 gene. …”
Get full text

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

“…Abstract Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. …”
Get full text

The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate by Laetitia Clotaire, Isabelle Rubera, Christophe Duranton, Jocelyn Gal, Emmanuel Chamorey, Hélène Humeau, Samir Yamani, Christine Chiaverini, Serge Willoteaux, Bernard Padovani, Laurie Mourozeau, Adam Mainguy, Stéphanie Baillif, Ludovic Martin, Georges Leftheriotis

“…Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch’s membrane. …”
Get full text

Effectiveness of implementation of sickle cell disease referral guidelines and other measures in paediatric department at a tertiary hospital in Saudi Arabia by Muhammad Matloob Alam, Abdulrhman Alathaibi, Hamdan Alghamdi, Jean Barrientos De Asis, Reynan Bautista, Mansour Aladwani, Mustafa Mohamed Selim

“…Background Sickle cell disease (SCD) is an autosomal recessive genetic blood disorder. It affects up to 2.6% of the Kingdom of Saudi Arabia population.Local problem The paediatric haematology/oncology (PHO) team noticed that 75% of paediatric patients were inappropriately referred to the PHO department. …”
Get full text

Molecular-genetic bases of plumage coloring in chicken by A. V. Makarova, O. V. Mitrofanova, A. B. Vakhrameev, N. V. Dementeva

“…The molecular base that causes the feather banding (locus B and autosomal recessive banding) is identified. Today, only some genes that determine the color of the plumage of chickens are studied and described. …”
Get full text

Clinical Study of Mobile Application- (App-) Based Family-Centered Care (FCC) Model Combined with Comprehensive Iron Removal Treatment in Children with Severe Beta Thalassemia by Yuke Chen, Xiuping Huang, Qingmei Lu, Jian Lu, Xiaoxiao Huang, Yanni Luo, Fengxing Huang

“…Thalassemia is characterized by autosomal recessive deficiencies in hemoglobin production. …”
Get full text

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy by Mohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, Ibrahim Bin Hussain, Hadeel Al-Manea, Hindi Al-Hindi, Shelley Kennedy, M. Anwar Iqbal, Hamad Al-Mojalli, Albandary Al-Bakheet, Anne Puel, Jean-Laurent Casanova, Saleh Al-Muhsen

“…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). …”
Get full text

Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis by Yossawat Suwanlikit, Bhakbhoom Panthan, Pawares Chitayanan, Sommon Klumsathian, Angkana Charoenyingwattana, Wasun Chantratita, Objoon Trachoo

“…Abstract Background Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. …”
Get full text

Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation by Muhammed Riyas K. Rahmath, Haytham Ibrahim, Muhammad Faiyaz-Ul-Haque, Zafar Nawaz, Ahmad Zitoun, Ahmed Hussein, Ahmed Sadek, Ayman El-Menyar, Reema Kamal, Hassan Al-Thani, Gulab Sher

“…<b>Background</b>/<b>Objectives</b>: Arterial Tortuosity Syndrome (ATS) is a rare, autosomal recessive connective tissue disorder characterized by arterial twists, abnormal bulges, constriction, and tears. …”
Get full text

Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa by You Na Kim, Yoon Jeon Kim, Chang Ahn Seol, Eul-Ju Seo, Joo Yong Lee, Young Hee Yoon

“…Most of the RP cases were associated with autosomal recessive variants (N = 64 (44.4%)), followed by autosomal dominant (N = 10 (6.9%)) and X-linked variants (N = 3 (2.1%)). …”
Get full text

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing by Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

“…GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, GLB1. …”
Get full text

Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa by Bo Gong, Bo Wei, Lulin Huang, Jilong Hao, Xiulan Li, Yin Yang, Yu Zhou, Fang Hao, Zhihua Cui, Dingding Zhang, Le Wang, Houbin Zhang

“…This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology. …”
Get full text

A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice by Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

“…Results Causative variants were identified in 2061 index patients (average 32.9%, ranging from 12 to 62% by condition). Also, 131 autosomal-recessive cases could be partially genetically diagnosed. …”
Get full text

Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

“…Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease. Most patients with SMA have a mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5q. …”
Get full text

Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study by Amal R. Mansour, Ayman El-Shayeb, Nihal El Habachi, Mohamad A. Khodair, Doaa Elwazzan, Nermeen Abdeen, Marwa Said, Riham Ebaid, Noha ElShahawy, Amr Seif, Nadia Zaki

“…Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive disease which is mainly seen in the Turks, Armenians, Arabs, and Jews. …”
Get full text

Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia by Jessica L. Sandy, Jessica L. Sandy, Jessica L. Sandy, Grant Betts, Jessica L. Harper, Suzanne M. Nevin, Suzanne M. Nevin, Suzanne M. Nevin, Rebecca Deans, Rebecca Deans, Rebecca Deans, Kristen A. Neville, Kristen A. Neville

“…A better healthcare professional understanding of these experiences may subsequently help guide clinicians to better manage and support families of children with CAH and other autosomal recessive conditions.MethodsAll parents of current children of a tertiary service in 2020 with 21-hydroxylase deficient CAH who made an active decision regarding family planning after diagnosis of their index child were invited to participate in a semi-structured interview. …”
Get full text

Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA by Paolo Peruzzo, Natascha Bergamin, Martina Bon, Sara Cappelli, Alessandra Longo, Elisa Goina, Cristiana Stuani, Emanuele Buratti, Andrea Dardis

“…Abstract Background Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid alpha glucosidase (GAA) enzyme due to mutations in the GAA gene. …”
Get full text