Molecular Genetics & Genomic Medicine Molecular Genetics & Genomic Medicine RSS feedThis is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 13, 2023 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America
ConclusionsMost VUS were reclassified as benign/likely benign. Since false-positive and -negative results can be obtained with automated tools, manual curation should also be used as a complement. Our results contribute to improving cancer risk assessment and management for a broad range of hereditary cancer syndromes in Hispanic/Latino populations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 11, 2023 Category: Genetics & Stem Cells Authors: Mar ía Carolina Manotas, Ana Lucia Rivera, María Carolina Sanabria‐Salas Tags: ORIGINAL ARTICLE Source Type: research

Detection of gonosomal mosaicism by ultra ‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy
ConclusionWe described a case of EDMD2 caused by maternal gonosomal mosaicism which was confirmed by using ultra-deep sequencing and ddPCR. This study illustrates the importance of a systematic and comprehensive screening of parental mosaicism with more sensitive approaches and the use of multiple tissue samples. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 10, 2023 Category: Genetics & Stem Cells Authors: Yanshu Xie, Jingsi Luo, Jingzi Zhong, Xu Liu, Jing Tang, Dan Lan Tags: ORIGINAL ARTICLE Source Type: research

Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene
ConclusionWe provide a possibility to detect giant mitochondria in other cells when muscle was not available. Moreover, clinicians should be aware that homozygous variants can be masqueraded by uniparental disomy or large deletions in offspring of non-consanguineous parents, and excessive homozygosity may be misdiagnosed. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 10, 2023 Category: Genetics & Stem Cells Authors: Tenghui Wu, Ciliu Zhang, Fang He, Li Yang, Fei Yin, Jing Peng Tags: ORIGINAL ARTICLE Source Type: research

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families
ConclusionsOne homozygous nonsense variant and one homozygous missense variant in theGAN gene were discovered for the first time in two unrelated Iranian families that expand the mutation spectrum of GAN. Imaging findings are nonspecific, but the electrophysiological study in addition to history is helpful to achieve the diagnosis. The molecular test confirms the diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 3, 2023 Category: Genetics & Stem Cells Authors: Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, Morteza Heidari, Masoud Ghahvechi  Akbari, Ali Reza Ronagh, Mohammad Ghafouri, Nejat Mahdieh, Pouria Mohammadi, Zahra Rezaei Tags: ORIGINAL ARTICLE Source Type: research

AXIN2 ‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature
ConclusionMore clarity about oligodontia-colorectal cancer syndrome, about the variable expression, and associated cancer risks is needed to improve clinical management and to establish guidelines for surveillance. We collected information about the surveillance that was advised, which might support clinical management of these patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 2, 2023 Category: Genetics & Stem Cells Authors: Laura Roht, Hanne K. Hyldebrandt, Astrid T. Stormorken, Hilde Nordgarden, Rolf H. Sijmons, Dennis K. Bos, Douglas Riegert ‐Johnson, Sarah Mantia‐Macklin, Pilvi Ilves, Kai Muru, Monica H. Wojcik, Tiina Kahre, Katrin Õunap Tags: ORIGINAL ARTICLE Source Type: research

Haplotype ‐dependent HLA‐DRB1‐DQB1 susceptibility to occult HBV infection in Xi'an Han population
ConclusionsThis study demonstrated that HLA II haplotypes were significantly associated with OBI in the Xi'an Han population. To the best of our knowledge, this is the first study to associate HLA-DRB1-DQB1 haplotypes with OBI, which can provide valuable insights into the relationship between the various genetic factors and immune responses in the Xi'an population. The findings can also form the basis for future studies about the role of HLA in OBI. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 28, 2023 Category: Genetics & Stem Cells Authors: Tianju Wang, Chunmei Shen, Jun Qi, Liping Chen, Sheng Liu, Hengxin Li Tags: ORIGINAL ARTICLE Source Type: research

Genetic characterization of the Berber ‐speaking population of Souss (Morocco) based on autosomal STRs
ConclusionHistorical events and geographical proximity have contributed to the affinity between the Souss and surrounding North African, Southern European, and Middle Eastern populations. Overall, this study highlights the reliability of the 15 STRs for identifying individuals and assessing paternity in the Souss population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 28, 2023 Category: Genetics & Stem Cells Authors: Noura Dahbi, Khadija Cheffi, Abderrazak El  Khair, Lamiaa Habbibeddine, Jalal Talbi, Abderraouf Hilali, Hicham El Ossmani Tags: ORIGINAL ARTICLE Source Type: research

Utility of whole ‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population
ConclusionsThe careful selection of patients by experienced geneticists and the exclusion of chromosomal aberrations raises the positive rate of the molecular diagnosis for CAs to 40%. However, more than half of the patients with CAs still do not have a genetic diagnosis by current technologies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 28, 2023 Category: Genetics & Stem Cells Authors: Rai ‐Hseng Hsu, Chen‐Hao Lee, Yin‐Hsiu Chien, Shuan‐Pei Lin, Miao‐Zi Hung, Nai‐Chi Chen, Yi‐Lin Lin, Wuh‐Liang Hwu, Ni‐Chung Lee Tags: ORIGINAL ARTICLE Source Type: research

Prenatal phenotype of Wolf –Hirschhorn syndrome: A case series and literature review
ConclusionThis study improved our understanding of the prenatal presentation of WHS by analyzing prenatal ultrasound abnormalities. The timely identification of prenatal ultrasound abnormalities can provide accurate consultation for pregnant women, improve the prenatal detection of WHS, and enable early prenatal management and intervention of WHS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 28, 2023 Category: Genetics & Stem Cells Authors: Feng Tang, Yang Zeng, Li Wang, Daishu Yin, Lin Chen, Dan Xie, Jing Wang Tags: ORIGINAL ARTICLE Source Type: research

A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype –phenotype correlation
ConclusionOur patient confirms that CMS20 can be associated with NDDs. The study illustrates the strength of ES in deciphering the genetic basis of rare diseases, contributes to characterization of CMS20 and suggests trends in genotype –phenotype correlation in CMS20. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 25, 2023 Category: Genetics & Stem Cells Authors: Marketa Vlckova, Darina Prchalova, Pavel Zimmermann, Jana Haberlova, Sarka Bendova, Veronika Moslerova, Viktor Stranecky, Zdenek Sedlacek, Miroslava Hancarova Tags: CLINICAL REPORT Source Type: research

First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP ‐C founder mutation
ConclusionIdentification of common mutations with other Maghreb populations is in favor of a common ancestor in North-African populations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 23, 2023 Category: Genetics & Stem Cells Authors: Najlaa Khalat, Olfa Messaoud, Mariem Ben  Rekaya, Mariem Chargui, Mohamed Zghal, Bashir Zendah, Najat Saqer, Mourad Mokni, Sonia Abdelhak, Othman A. Mohamed Tags: ORIGINAL ARTICLE Source Type: research

Novel IRF6 variant in orofacial cleft patients from Durban, South Africa
ConclusionsThis study provides evidence thatIRF6 variants are found in the South African population. Genetic counselling is essential for affected families, particularly in the absence of a known clinical phenotype since it helps with the plans for future pregnancies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 22, 2023 Category: Genetics & Stem Cells Authors: Thirona Naicker, Azeez Alade, Chinyere Adeleke, Peter A. Mossey, Waheed A. Awotoye, Tamara Busch, Mary Li, Joy Olotu, Colleen Aldous, Azeez Butali Tags: ORIGINAL ARTICLE Source Type: research

Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects
ConclusionsThis study explored the functional impact of a missense variant inTCOF1, implicating a set of novel causative biological factors involved in the pathogenicity of human NTDs, particularly whom combined with craniofacial abnormality. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 21, 2023 Category: Genetics & Stem Cells Authors: Fang Wang, Haiqin Cheng, Qin Zhang, Jin Guo Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 18, 2023 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research