Molecular Genetics & Genomic Medicine This 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.

Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature
ConclusionsCCHS patients withPHOX2B NPARMs were more likely to have premature birth and low birth weight, whilePHOX2B PARMs tended to be positively associated with the risk of cardiovascular defects, cerebral hemorrhage and seizures in Chinese population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 16, 2023 Category: Genetics & Stem Cells Authors: Yaoyao Wang, Lina Wang, Xiaoying Chen, Shiguo Liu, Wei Han, Xinjuan Yu, Xipeng Cao, Xiuxiang Liu, Jiahui Wang Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 12, 2023 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism
ConclusionsWith the best predictor of survival and positive cognitive outcome in PDCD being age of diagnosis, PDCD patients would benefit from use of such highly SN and SP AA ratio combination cutoffs as biomarkers for early identification of at-risk newborns, infants, and children, for early intervention(s) with known and/or novel therapeutics for this disorder. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 9, 2023 Category: Genetics & Stem Cells Authors: Anisha Verma, April N. Lehman, Hatice Gokcan, Lorna Cropcho, Danielle Black, Steven F. Dobrowolski, Jerry Vockley, Jirair K. Bedoyan Tags: ORIGINAL ARTICLE Source Type: research

Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review
ConclusionAll patients with primary brain calcification, particularly younger patients without a family history of the disease, should be screened forMYORG mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 8, 2023 Category: Genetics & Stem Cells Authors: Tianxue Zhao, Shaokun Xu, Siyue Liu, Juan Xu, Xianfeng Zhang, Yuhong Zhan Tags: CLINICAL REPORT Source Type: research

Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab
ConclusionIn conclusion, the current investigation showed that to the best of our knowledge, this is the first DEB-Pr patient with heterozygous COL7A1 (NM_000094.3:c.8110G>A [p. Gly2704Arg]) who responded positively to dupilumab treatment without experiencing any serious side effects. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 7, 2023 Category: Genetics & Stem Cells Authors: Caichou Zhao, Shuanglin Cao, Xinghua Gao, Xuegang Xu, Lixiong Gu Tags: ORIGINAL ARTICLE Source Type: research

New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742 ‐2A > G
ConclusionWe demonstrate that the very rare splice acceptor variantEDA c.742-2A>G is associated with severe oligodontia even in females. Our study points that this variant is pathogenic. An early identification of this variant is crucial for planning adequate treatment and follow-up in time by a multidisciplinary team. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 5, 2023 Category: Genetics & Stem Cells Authors: Vivian Reinhold, Stina Syrj änen, Minna Kankuri‐Tammilehto Tags: CLINICAL REPORT Source Type: research

Clinical heterogeneity of polish patients with KAT6B –related disorder
ConclusionWhile most of the anomalies found in our patients comply with SBBYSS criteria, phenotypic differences in our probands support a broader spectrum of the disease phenotype. To establish the range of this spectrum, a detailed analysis of clinical variability among patients with SBBYSS requires further investigation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 2, 2023 Category: Genetics & Stem Cells Authors: Klaniewska Magdalena, Bolanowska ‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Tags: ORIGINAL ARTICLE Source Type: research

Clinical analysis of Gabriele ‐de Vries caused by YY1 mutations and literature review
ConclusionsThe mutation site is reported for the first time, and its discovery would expand the mutation spectrum of theYY1 gene. The main clinical manifestations of Gabriele-de Vries syndrome are developmental delay/intellectual disability, craniofacial dysplasia, intrauterine growth delay, low birth weight, feeding difficulties, and rare congenital malformations. Genetic tests are crucial techniques for its diagnosis because of its nonspecific clinical manifestations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 2, 2023 Category: Genetics & Stem Cells Authors: Jingjing Yang, Chaonan Yu, Nan Lyn, Lei Liu, Dongxiao Li, Qing Shang Tags: ORIGINAL ARTICLE Source Type: research

Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review
ConclusionOur findings indicate that FGC may be an atypical variant of GDD, providing evidence for the feasibility ofANO5 gene testing as an auxiliary diagnostic method for complex cases with multiple quadrants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 31, 2023 Category: Genetics & Stem Cells Authors: Zheng Zhou, Ye Zhang, Lijing Zhu, Yajuan Cui, Yan Gao, Chuan ‐Xiang Zhou Tags: ORIGINAL ARTICLE Source Type: research

A somatic splice ‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report
ConclusionsThis is the first intronic SNV in a canonical splice site within iSH2 described, highlighting the importance of iSH2 in the regulation of the PI3K/AKT pathway and its involvement in the development of vascular overgrowth and antibody deficiency. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 29, 2023 Category: Genetics & Stem Cells Authors: Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee Tags: CLINICAL REPORT Source Type: research

Exome sequencing findings in children with annular pancreas
ConclusionIQGAP1 andNRCAM are crucial in cell polarization and migration. Mutations result in decreased motility which could possibly cause the ventral bud to not migrate normally. To our knowledge, this is the first study reporting a possible association forIQGAP1 andNRCAM with AP. Our findings of rare genetic variants involved in cell migration in 15% of our population raise the possibility that AP may be related to abnormal cell migration. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 28, 2023 Category: Genetics & Stem Cells Authors: Georgia Pitsava, Nathan Pankratz, John Lane, Wei Yang, Shannon Rigler, Gary M. Shaw, James L. Mills Tags: ORIGINAL ARTICLE Source Type: research

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population
ConclusionIn retrospect, his symptomatology matches the known medical conditions associated with theATP1A3 gene namely Alternating Hemiplegia of Childhood 2 (AHC), a rare autosomal dominant disorder with an incidence of 1 in one million. His single nucleotide variant, (c.2401G>A, p.D801N), is predicted to be damaging. The specific amino acid change p.D801N has been previously reported in ClinVar along with the allelic variant p.D801Y and both are considered pathogenic. The identification of this variant altered medical management for this patient as he was started on a calcium antagonist and has reported no further hemi...
Source: Molecular Genetics & Genomic Medicine - August 24, 2023 Category: Genetics & Stem Cells Authors: Cara P. Ford, Rebecca O. Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A. Schmid, The Texome Project Tags: CLINICAL REPORT Source Type: research

A new line method; A direct test in spinal muscular atrophy screening for DBS
ConclusionIn the NLM, the total test duration has been reduced to less than 75  min without requiring any extra process such as DNA extraction step and sample plate preparation after the punching step. Thereby, newborn SMA screening with the NLM has gained an environmentally friendly feature with not requiring additional tedious steps. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 24, 2023 Category: Genetics & Stem Cells Authors: Ayhan Kubar, Sehime G ülsüm Temel, Serdar Beken, Gizem Onder, Ozden Hatirnaz, Ayse Korkmaz, Yasemin Alanay, Ugur Ozbek, Sebnem Ozemri Sag, Mahmut Cerkez Ergoren, Elif Kubar, Candan Zeynep Sonmezalp, Ozlem Doğan Tags: ORIGINAL ARTICLE Source Type: research

A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype –phenotype correlations
ConclusionThese data providescientific evidence for the genetic diagnosis and precision clinical management. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 22, 2023 Category: Genetics & Stem Cells Authors: Wenjing Zhao, Yinhong Zhang, Tao Lv, Jing He, Baosheng Zhu Tags: ORIGINAL ARTICLE Source Type: research

Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations
ConclusionsSCN1A pathogenic variants are the main factor leading to EIEE, similar to previously published cohort reports. NGS is useful for accurate clinical diagnoses and precise treatment choices. We also reported a rare case of EIEE84 caused by variants in theUGDH gene in a Chinese patient. This study further enriches the known spectrum of pathogenic EIEE genes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 19, 2023 Category: Genetics & Stem Cells Authors: Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang Deng Tags: ORIGINAL ARTICLE Source Type: research