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   Articles with "pathogenic variant" as a keyword



The role of family history in predicting germline pathogenic variant carriers who develop pancreatic cancer: Results of a multicenter collaboration

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recommendations! Published in 2024 at "Cancer"

DOI: 10.1002/cncr.35383

Abstract: Pancreatic ductal adenocarcinoma (PDAC) surveillance is recommended for some individuals with a pathogenic or likely pathogenic variant (PV/LPV) in a PDAC susceptibility gene; the recommendation is often dependent on family history of PDAC. This study… read more here.

Keywords: family history; pathogenic variant; cancer; history ... See more keywords

Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis

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recommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2494

Abstract: We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole‐exome sequencing revealed a de novo gain‐of‐function variant, p.Tyr715Cys, in the C‐terminal domain of ClC‐7 encoded by… read more here.

Keywords: osteopetrosis; multisystem disorder; variant; pathogenic variant ... See more keywords

De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss‐of‐Function Variant Resolved by RNA Analysis

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recommendations! Published in 2025 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.70127

Abstract: Developmental and epileptic encephalopathies (DEEs) comprise a diverse range of disorders that can arise from both genetic and non‐genetic causes. Genetic DEEs are linked to pathogenic variants in various genes with different molecular functions. The… read more here.

Keywords: hnrnpu pathogenic; developmental epileptic; variant; pathogenic variant ... See more keywords

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

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recommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.845

Abstract: Activating pathogenic variants in PIK3CA gene usually occur at a mosaic status and underlie a variety of segmental overgrowth phenotypes. Germline variants in PIK3CA have been rarely reported, described in a total of 12 patients… read more here.

Keywords: variant pik3ca; pathogenic variant; leading symmetrical; pik3ca leading ... See more keywords

Likely pathogenic variant in the BICD2 gene in fetus presenting with non-immune hydrops.

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recommendations! Published in 2023 at "Prenatal diagnosis"

DOI: 10.1002/pd.6386

Abstract: Trio exome sequencing was performed on a fetus presenting with severe hydrops fetalis at 21+0 weeks gestation. A novel de novo BICD2 missense variant was identified in the fetus. Pathogenic variants in the BICD2 gene… read more here.

Keywords: bicd2 gene; pathogenic variant; variant; fetus presenting ... See more keywords

Caudal regression in fetus with de novo SMARCA2 pathogenic variant

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recommendations! Published in 2024 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6627

Abstract: Nicolaides‐Baraitser syndrome (NCBRS) is a rare autosomal dominant genetic condition that is characterized by severe intellectual disability, dysmorphic facial features, short stature, sparse hair, and early onset seizures. This diagnosis is established by suggestive clinical… read more here.

Keywords: smarca2 pathogenic; pathogenic variant; caudal regression; variant ... See more keywords

Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene

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recommendations! Published in 2025 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6736

Abstract: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome. read more here.

Keywords: fetus pathogenic; pathogenic variant; renal skeletal; skeletal anomalies ... See more keywords

Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants

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recommendations! Published in 2018 at "Graefe's Archive for Clinical and Experimental Ophthalmology"

DOI: 10.1007/s00417-018-4075-9

Abstract: PurposeSchnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. The aim of this study is to report a novel pathogenic… read more here.

Keywords: diversity patients; clinical diversity; pathogenic variant; corneal dystrophy ... See more keywords

A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC

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recommendations! Published in 2020 at "Neurological Sciences"

DOI: 10.1007/s10072-020-04595-z

Abstract: The purpose of this research is to explore the underlying genes of Charcot-Marie-Tooth (CMT). Technologies such as electrophysiological testing and gene sequencing have been applied. We identified a novel variant NEFH c.2215C>T(p.P739S)(HGNC:7737) in a heterozygous… read more here.

Keywords: novel missense; missense pathogenic; variant nefh; pathogenic variant ... See more keywords

A Recurrent Biallelic Pathogenic Variant in TBXAS1 Gene Causing Ghosal Hematodiaphyseal Dysplasia

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recommendations! Published in 2020 at "Indian Journal of Pediatrics"

DOI: 10.1007/s12098-020-03581-9

Abstract: To the Editor:Ghosal hematodiaphyseal dysplasia (GHHD) is a rare autosomal recessive disorder with increased bone density, meta-diaphyseal dysplasia, and defective hematopoiesis [1]. We report a known pathogenic variant in TBXAS1 gene from South India, the… read more here.

Keywords: tbxas1 gene; ghosal hematodiaphyseal; pathogenic variant; dysplasia ... See more keywords

Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin

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recommendations! Published in 2024 at "Journal of Applied Genetics"

DOI: 10.1007/s13353-024-00896-7

Abstract: Urofacial syndrome or Ochoa syndrome (UFS or UFOS) is a rare disease characterized by inverted facial expression and bladder dysfunction that was described for the first time in Colombia. It is an autosomal recessive pathology… read more here.

Keywords: hpse2 gene; pathogenic variant; syndrome;