Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome [PDF]
Frontiers in ImmunologyGonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their ...
Joie Davis, Davis Joie, Uzel Gulbu
exaly +4 more sources
Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients [PDF]
Diagnostics, 2022 Background: Hemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly affect males born from a mother carrier. Females are rarely affected but a number of mechanisms have been suggested in symptomatic females, such as skewed X-chromosome ...
Ming Chen +2 more
exaly +4 more sources
Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review [PDF]
Current Issues in Molecular BiologyGermline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling.
Mohammad Jakir Hosen +2 more
exaly +4 more sources
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants [PDF]
Molecular Genetics and Metabolism Reports, 2022 Background: GNAO1 encodes an alpha subunit of the heterotrimeric guanine nucleotide-binding proteins (G proteins). Mutations in GNAO1 result in two clinical phenotypes: Early infantile epileptic encephalopathy 17 (EEIE17-OMIM #615473) and ...
Zainab Al Masseri, Moeenaldeen AlSayed
doaj +2 more sources
Two sisters with cardiac‐urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism? [PDF]
Molecular Genetics & Genomic Medicine, 2023 Background Cardiac‐urogenital syndrome [MIM # 618280] is a newly described very rare syndrome associated with pathogenic variants in the myelin regulatory factor (MYRF) gene that leads to loss of protein function.
Katerina Slaba +8 more
doaj +2 more sources
Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements. [PDF]
Mol Cytogenet, 2016 Mosaicism for chromosomal structural rearrangements (Rea) is rare and the timing and mechanisms of mosaic Rea formation, maintenance, and clinical manifestation are poorly understood. To date, there are no published data on the cytogenetic profile of mosaic Reas.
Kovaleva NV, Cotter PD.
europepmc +4 more sources
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes [PDF]
Molecular Genetics & Genomic Medicine, 2019 Background Intellectual disability (ID) is a complex condition that can impact multiple domains of development. The genetic contribution to ID’s etiology is significant, with more than 100 implicated genes and loci currently identified.
Muhammad M. Rahman +14 more
doaj +2 more sources
Molecular Cytogenetic Detection of Confined Gonadal Mosaicism in a Conceptus with Trisomy 16 Placental Mosaicism [PDF]
American Journal of Human Genetics, 1998 Microsatellite analysis was performed in the laboratory of Dr. W. P. Robinson. We thank I. J. Barrett, F. Bernasconi, and B. L. Lomax, of the Research Cytogenetics and Molecular Genetics Laboratories, for their technical assistance. The comments, on the manuscript, of Drs. W. P. Robinson, F. J. Dill, E. Separovic, and A.
David Bick, D K Kalousek
exaly +3 more sources
Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue [PDF]
Molecular Genetics & Genomic MedicineBackground Li Fraumeni syndrome (LFS) is a hereditary multi‐cancer syndrome caused by alterations in TP53 (MIM# 151623). Next generation sequencing (NGS) allows for the detection of TP53 variants at lower variant allele frequencies (VAFs). A TP53 variant
Rhianna M. Urban +9 more
doaj +2 more sources
Frontiers in Genetics, 2022 Objective: Paternal sperm mosaicism has few consequences for fathers for mutations being restricted to sperm. However, it could potentially underlie severe sporadic disease in their offspring.
Jiexue Pan +14 more
doaj +1 more source