Germline

Aguilera C, Padró-Miquel A, Esteve-Garcia A, Cerdà P, Torres-Iglesias R, Llecha N, Riera-Mestre A. Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience. Genes. 2023;14(3):772. Nonacus product: Germline Abstract Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) and activin A receptor…

Suntharalingham JP, Ishida M, Cameron-Pimblett A, Buonocore F, del Valle I, Achermann JC. Analysis of genetic variability in Turner syndrome linked to long-term clinical features. Frontiers in Endocrinology. 2023;14:1227164. Nonacus product: Germline Abstract Women with Turner syndrome (TS) (45,X and related karyotypes) have an increased prevalence of conditions such as diabetes mellitus, obesity, hypothyroidism, autoimmunity,…

Blasco-Pérez L, Iranzo-Nuez L, López-Ortega R, Martínez-Cruz D, Camprodon-Gómez M, Tenés A, et al.An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants. The Journal of Molecular Diagnostics. 2023;25(9):692-70 Nonacus product: Germline Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the presence…

Steel DB, Danti FR, Abunada M, Kamien B, Malhotra S, Topf, et al. Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants. Neurology. 2023;100(21):e2214-23.   Nonacus products: Germline Abstract Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and…

Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, et al. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita. The American Journal of Human Genetics. 2022;109(8):1472-83. Nonacus products: Germline Summary:  Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by a triad of mucocutaneous features that include abnormal skin pigmentation,…

Suntharalingham JP, Ishida M, Del Valle I, Stalman SE, Achermann JC, et al. Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome. Frontiers in Endocrinology. 2022;13:953707. Nonacus Products: Prenatal healthcare Background Heterozygous de novo variants in SAMD9 cause MIRAGE syndrome, a complex multisystem disorder involving Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy. The range of…

McGlacken-Byrne SM, Suntharalingham JP, Ishida M, Buonocore F, Del Valle I, Cameron-Pimblett A, et al. Exome sequencing reveals a high proportion of causal and candidate gene variants in a large early-onset Primary Ovarian Insufficiency cohort. Hormone research in paediatrics 2022;95;2; 386-387 Nonacus products: Germline Background The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often…

Segarra-Casas A, Collet R, Gonzalez-Quereda L, Vesperinas A, Caballero-Ávila M, Carbayo A, et al. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness. Neuromuscular Disorders. 2023;33(4):319-23. Nonacus products: Germline Abstract Nemaline myopathy (NEM)1 type 10, caused by biallelic mutations in LMOD3, is a severe congenital myopathy clinically characterized by generalized…

Nagra D, Russell MD, Alveyn E, Birring SS, Elias D, Balachandran S, et al. Diagnosing Camurati-Engelmann disease-the age of whole-exome sequencing. Rheumatology. 2023;62(7):e221-2. Nonacus products: Germline Background Camurati-Engelmann disease, an autosomal dominant disorder first described in 1920, is caused by mutations in the Transforming Growth Factor Beta 1 gene, resulting in sclerotic bone disease. The disease…