Results 41 to 50 of about 8,531 (188)

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction

Molecular Autism, 2018
Background Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected ...
Anneke de Boer, Karlijn Vermeulen, Jos I. M. Egger, Joost G. E. Janzing, Nicole de Leeuw, Hermine E. Veenstra-Knol, Nicolette S. den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra   +9 more
doaj   +1 more source

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

BMC Medical Genetics, 2018
Background Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability.
Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli, Antonio Amodeo   +11 more
doaj   +1 more source

RANBP2 susceptibility to infection-induced encephalopathy: Clinicoradiologic and molecular description in a Malaysian family

Molecular Genetics and Metabolism Reports, 2020
Pathogenic variants in RANBP2 cause autosomal dominant familial and recurrent Acute Necrotizing Encephalopathy of Childhood (ANEC). Affected children typically experience a 3-stage disease: a 3 to 5 days prodrome of non-specific febrile illness, acute ...
H.B. Chew, L.H. Ngu
doaj   +1 more source

Retinoblastoma in twins: Risk assessment of genotypic variants

Indian Journal of Ophthalmology, 2021
Purpose: To describe methods of risk assessment in twins with retinoblastoma (RB). Methods: A case series of four RB probands with a twin sibling. Family status, clinical presentation, and RB1 germline status-based risk assessment were analyzed. Results:
Vishal Raval, Meghan DeBenedictis, Randy Bowen, Hansell Soto, Jacquelyn Davanzo, Arun Singh   +5 more
doaj   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Nephrogenic Rests/Nephroblastomatosis in Patients With Unilateral Wilms Tumor Are Not Associated With an Increased Risk of Relapse: An Analysis of Patients Treated on the SIOP‐WT‐2001 Protocol in the SIOP‐UK‐CCLG and SIOP‐GPOH Studies (2001–2022)

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Nephrogenic rests (NRs) and nephroblastomatosis (NBM) are precursor lesions for development of Wilms tumor (WT). Their association with the risk of relapse has not been properly assessed, partly due to misunderstanding of their diagnostic criteria and terminology.
Gordan M. Vujanić, Rhoikos Furtwängler, Tanzina Chowdhury, Christian Vokuhl, Jenny Wegert, Norbert Graf   +5 more
wiley   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

A Synonymous DLG4 Variant (c.771G>A) Causes Exon 9 Skipping via Paternal Germline Mosaicism in DLG4‐Related Synaptopathy

Molecular Genetics & Genomic Medicine
Background The synonymous DLG4 variant is annotated with conflicting pathogenicity interpretations, and its molecular mechanism remains uncharacterized.
Jing Chen, Qinfei Zhao, Xinyue Zhang, Nan Wu, Xuxiang Xi, Yin Zeng, Sa Wu, Kun Yuan, Zezhang Liu, Xiangsheng Wu, Shaoying Zeng   +10 more
doaj   +1 more source

Multi‐exon COL5A1 deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism

Clinical Case Reports, 2022
Classical Ehlers–Danlos syndrome (cEDS) is a rare inherited autosomal dominant connective tissue disorder with core clinical features including skin hyperextensibility, abnormal scarring, and generalized joint hypermobility.
Sonja Strang‐Karlsson, Sylvia Keigwin, Anna‐Kaisa Anttonen, Duncan Baker, Kerry Bean, Eveliina Jakkula   +5 more
doaj   +1 more source

Detection of Very Low-Level Somatic Mosaic COL4A5 Splicing Variant in Asymptomatic Female Using Droplet Digital PCR

Frontiers in Medicine, 2022
BackgroundAlport syndrome is a hereditary glomerulopathy featured by haematuria, proteinuria, and progressive renal failure. X-linked Alport syndrome (XLAS) due to COL4A5 disease-causing variants is the most common form.
Haiyue Deng, Yanqin Zhang, Jie Ding, Fang Wang   +3 more
doaj   +1 more source