Liu, Yi Kang, Lulu Li, Dongxiao Jin, Ying Song, Jinqing Li, Haixia Wang, Junjuan Yang, Yanling
Published in
Journal of human genetics
Cobalamin G (cblG) and cobalamin J (cblJ) defects are rare disorders of cbl metabolism caused by MTR and ABCD4 mutations, respectively. Patients with atypical biochemical features can be missed by current newborn screening using tandem mass spectrometry (MS/MS), in which total homocysteine (tHCY) in dried blood spots (DBS) is not a primary biomarke...
Krivokuca, Ana Boljevic, Ivana Jovandic, Stevo Magic, Zvonko Mandic, Aljosa Tomasevic, Zorica Brankovic-Magic, Mirjana
Published in
Journal of human genetics
Clinical criteria for genetic testing of genes other than BRCA1/2 in epithelial ovarian cancer (EOC) still do not exist. We assessed the frequency and predictors of deleterious mutations in 19 cancer predisposition genes in high-grade serous ovarian cancer (HGSOC) in Serbia. Next-generation sequencing was used to identify germline mutations in the ...
Murayama, Kei Shimura, Masaru Liu, Zhimei Okazaki, Yasushi Ohtake, Akira
Published in
Journal of human genetics
Mitochondrial diseases are inherited metabolic diseases based on disorders of energy production. The expansion of exome analyses has led to the discovery of many pathogenic nuclear genes associated with these diseases, and research into the pathogenesis of metabolic diseases has progressed. In cases of Leigh syndrome, it is desirable to perform bot...
Vineeth, Venugopal S Das Bhowmik, Aneek Balakrishnan, Surya Dalal, Ashwin Aggarwal, Shagun
Published in
Journal of human genetics
We report on a sib pair of Indian origin born of a consanguineous parentage with a novel phenotype of distinct facial dysmorphism, cerebellar ataxia, dystonia, and exudative retinopathy due to homozygous PCDH12 nonsense variations. cDNA studies showed >90% reduction in transcript levels in both patients, indicating nonsense-mediated decay and loss ...
Faundes, Víctor Malone, Geraldine Newman, William G Banka, Siddharth
Published in
Journal of human genetics
Determining the clinical significance of germline and somatic KMT2D missense variants (MVs) in Kabuki syndrome (KS) and cancers can be challenging. We analysed 1920 distinct KMT2D MVs that included 1535 germline MVs in controls (Control-MVs), 584 somatic MVs in cancers (Cancer-MVs) and 201 MV in individuals with KS (KS-MVs). The proportion of MVs l...
Ma, Liang Jiang, Yongwei Kong, Xiaomu Liu, Qian Zhao, Hailing Zhao, Tingting Cao, Yongtong Li, Ping
Published in
Journal of human genetics
We investigated the interaction of MTHFR C677T polymorphism (rs1801133) with smoking in susceptibility to diabetic nephropathy (DN) in Chinese men with type 2 diabetes mellitus (T2DM). We studied 655 Chinese men with T2DM, who were divided into two groups (321 with DN and 334 without DN). The genotype of MTHFR C677T polymorphism was detected by rea...
Yamamoto, Kayono Shimizu, Atsushi Aizawa, Fumie Kawame, Hiroshi Tokutomi, Tomoharu Fukushima, Akimune
Published in
Journal of human genetics
Several biobanks have begun returning genetic results to individuals, making the development of public genetic literacy an urgent task for their effective use. No research exists regarding the effects of genetic education on biobank participants, so we conducted genetics workshops with specialists, and surveyed differences in the participants' (n =...
Hebbar, Malavika Shukla, Anju Nampoothiri, Sheela Bielas, Stephanie Girisha, Katta M
Published in
Journal of human genetics
Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome sequencing of index cases. The cohort consists of thr...
Yamada, Takahiro Sekizawa, Akihiko Fujii, Yosuke Hirose, Tatsuko Samura, Osamu Suzumori, Nobuhiro Miura, Kiyonori Sawai, Hideaki Hirahara, Fumiki Murotsuki, Jun
...
Published in
Journal of human genetics
The data collected by nation-wide study of noninvasive prenatal genetic testing (NIPT) for trisomy 21 from 21,610 pregnant women with advanced maternal age in Japan were reported. Among 188 NIPT-positive cases, 180 cases were true positive. The incidence of aneuploidy according to maternal age was estimated using a state-space model. Although, the ...
Bourque, Danielle K Dyment, David A MacLusky, Ian Kernohan, Kristin D McMillan, Hugh J
Published in
Journal of human genetics
Biallelic mutations in NALCN are responsible for infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1). Common features of this condition include severe neonatal-onset hypotonia and profound global developmental delay. Given the rarity of this condition, long-term natural history studies are limited. Here, we present...
