Results 211 to 220 of about 142,271 (283)

A Novel Homozygous Nonsense Pathogenic Variant of the CPAMD8 Gene Associated With Congenital Microcoria

Clinical Genetics, EarlyView.
A novel CPAMD8 nonsense mutation c.2679C>G (p.Tyr893*) was identified in a patient with congenital microcoria, leading to reduced mRNA expression and predicted protein truncation. ABSTRACT Congenital microcoria (MCOR) is a rare inherited ocular disorder. Here, we describe a novel nonsense variant in the CPAMD8 gene in a patient with MCOR.
Jing‐Fan Gao, Xin Jin, Jing‐Rao Wang, Shu Wang, Hong Zhang   +4 more
wiley   +1 more source

Mechanism-based approach in designing patient-specific combination therapies for nonsense mutation diseases. [PDF]

Nucleic Acids Res
Bhat SY, Bhattacharya A, Li H, Cui X, Lueck JD, Goldman YE, Cooperman BS.   +6 more
europepmc   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

Clinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib, Thomas Rio Frio, Jean‐Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha‐Vinh Leuchter, Marc Abramowicz, Rosalinda Giannini, Siv Fokstuen   +12 more
wiley   +1 more source

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria. [PDF]

Front Genet
Jia N, Yimin Y, Li M, Jiang L, Liu Y.
europepmc   +1 more source

Mapping the Prevalence of Lynch Syndrome in the Ceará—Northeast of Brazil

Clinical Genetics, EarlyView.
Distribution of pathogenic variants associated with Lynch syndrome across Brazil, with a particular emphasis on the state of Ceará. The illustration highlights the most frequently reported MMR genetic variants in Brazil and provides a magnified view of Ceará, where three novel variants were identified in the APC, SMAD4, and MSH6 genes within specific ...
Maria Claudia dos Santos Luciano, Paulo Goberlanio de Barros Silva, Rosane Oliveira de Sant'Ana, Clarissa Gondim Picanço de Albuquerque, Francisca Fernanda Barbosa Oliveira, Flavio da Silveira Bitencourt, Isabelle Joyce de Lima Silva Fernandes, José Fernando Bastos Moura, Maria Júlia Barbosa Bezerra   +8 more
wiley   +1 more source

The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia. [PDF]

J Clin Lab Anal
Qian C, Huang C, Luo Q, Qin K, Wu Y, Liao L, Zhang Q, Xiang L, Yan J.   +8 more
europepmc   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family. [PDF]

Front Genet
Huang C, Huang Z, Wang P, Wu X, Zhou Q, Ding J, Luo Q, Wu W, Fan X, Fan L.   +9 more
europepmc   +1 more source

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, EarlyView.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report. [PDF]

Heliyon
Makhmetov S, Temirkhanova K, Rakhimova S, Satvaldina N, Kalendar R, Kozhamkulov U, Bolatov A, Bayanova M, Bazenova A, Nazarova L, Akilzhanova A, Kairov U.   +11 more
europepmc   +1 more source