Effraimidis, Grigoris Feldt-Rasmussen, Ulla Rasmussen, Åse Krogh Lavoie, Pamela Abaoui, Mona Boutin, Michel Auray-Blais, Christiane
Published in
Journal of medical genetics
Recent studies showed the usefulness of globotriaosylsphingosine (lyso-Gb3) and related analogues, deacylated forms of globotriaosylceramide (Gb3), for high-risk screening, treatment monitoring and follow-up for patients with Fabry disease. We evaluated Gb3, lyso-Gb3 and analogues using tandem mass spectrometry in 57 women with Fabry disease follow...
Yao, Chencheng Yang, Chao Zhao, Liangyu Li, Peng Tian, Ruhui Chen, Huixing Guo, Ying Huang, Yuhua Zhi, Erlei Zhai, Jing
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Published in
Journal of medical genetics
The genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear. Two Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his elder sister suffered from infertility. Whole-exo...
Malhotra, Alka Ziegler, Alban Shu, Li Perrier, Renee Amlie-Wolf, Louise Wohler, Elizabeth Lygia de Macena Sobreira, Nara Colin, Estelle Vanderver, Adeline Sherbini, Omar
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Published in
Journal of medical genetics
To determine the potential disease association between variants in LMBRD2 and complex multisystem neurological and developmental delay phenotypes. Here we describe a series of de novo missense variants in LMBRD2 in 10 unrelated individuals with overlapping features. Exome sequencing or genome sequencing was performed on all individuals, and the coh...
Crosbie, Emma J Ryan, Neil A J McVey, Rhona J Lalloo, Fiona Bowers, Naomi Green, Kate Woodward, Emma R Clancy, Tara Bolton, James Wallace, Andrew J
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Published in
Journal of medical genetics
Hereditary causes of ovarian cancer include Lynch syndrome, which is due to inherited pathogenic variants affecting one of the four mismatch repair genes involved in DNA repair. The aim of this study was to evaluate tumour mismatch repair deficiency and prevalence of Lynch syndrome in high-risk women referred to the Manchester Centre for Genomic Me...
Teranishi, Yu Miyawaki, Satoru Hongo, Hiroki Dofuku, Shogo Okano, Atsushi Takayanagi, Shunsaku Ota, Takahiro Yoshimura, Jun Qu, Wei Mitsui, Jun
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Published in
Journal of medical genetics
Although 60% of patients with de novo neurofibromatosis type 2 (NF2) are presumed to have mosaic NF2, the actual diagnostic rate of this condition remains low at around 20% because of the existing difficulties in detecting NF2 variants with low variant allele frequency (VAF). Here, we examined the correlation between the genotype and phenotype of m...
Zhang, Yan Li, Shiwu Li, Xiaoyan Yang, Yongfeng Li, Wenqiang Xiao, Xiao Li, Ming Lv, Luxian Luo, XiongJian
Published in
Journal of medical genetics
The association between NOTCH4 and schizophrenia has been repeatedly reported. However, the results from different genetic studies are inconsistent, and the role of NOTCH4 in schizophrenia pathogenesis remains unknown. Here, we provide convergent lines of evidence that support NOTCH4 as a schizophrenia risk gene. We first performed a meta-analysis ...
Mendoza, Jonathan Downs, Jenny Wong, Kingsley Leonard, Helen
Published in
Journal of medical genetics
Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. The International Rett Syndrome Database, InterRett, was used as a sampling frame for this obser...
Al-Deri, Noraldin Okur, Volkan Ahimaz, Priyanka Milev, Miroslav Valivullah, Zaheer Hagen, Jacob Sheng, Yufeng Chung, Wendy Sacher, Michael Ganapathi, Mythily
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Published in
Journal of medical genetics
Next-generation sequencing has facilitated the diagnosis of neurodevelopmental disorders with variable and non-specific clinical findings. Recently, a homozygous missense p.(Asp37Tyr) variant in TRAPPC2L, a core subunit of TRAPP complexes which function as tethering factors during membrane trafficking, was reported in two unrelated individuals with...
Qin, Zixin Kuok, Cheong Nang Dong, Hui Jiang, Luhan Zhang, Li Guo, Maoni Leong, Hio Kuan Wang, Lei Meng, Grace Wang, San Ming
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Published in
Journal of medical genetics
Pathogenic mutation in BRCA genes causes high cancer risk. Identifying the mutation carriers plays key roles in preventing BRCA mutation-related cancer. Population screening has demonstrated its power for comprehensive identification of the mutation carriers. However, it is only recommended for the Ashkenazi Jewish population with high prevalence o...
Ravenscroft, Gina Clayton, Joshua S Faiz, Fathimath Sivadorai, Padma Milnes, Di Cincotta, Rob Moon, Phillip Kamien, Ben Edwards, Matthew Delatycki, Martin
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Published in
Journal of medical genetics
Fetal akinesia and arthrogryposis are clinically and genetically heterogeneous and have traditionally been refractive to genetic diagnosis. The widespread availability of affordable genome-wide sequencing has facilitated accurate genetic diagnosis and gene discovery in these conditions. We performed next generation sequencing (NGS) in 190 probands ...
