Results 1 to 10 of about 282,756 (243)

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 Immunology
Gonadal 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 ...
Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, NIAID Centralized Sequencing Program Working Group, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A. Walkiewicz, Bryce A. Seifert, Nadjalisse Reynolds-Lallement, Rachel Gore Moses, Michael Gore Moses, Sarah Bannon, Sophie Byers, Ekaterina Damskey, Sruthi Srinivasan, Adrienne Borges, Nicole Gentile   +31 more
doaj   +5 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   +3 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, Marta Jezova, Petra Pokorna, Hana Palova, Jana Tuckova, Jan Papez, Dagmar Prochazkova, Petr Jabandziev, Ondrej Slaby   +8 more
doaj   +3 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-Ching Shen, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Chen, Gwo-Chin Ma   +5 more
doaj   +3 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.
Kovaleva NV, Cotter PD.
europepmc   +5 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, KM Furkan Uddin, Nesreen K. Al Jezawi, Noushad Karuvantevida, Hosneara Akter, Nushrat J. Dity, Md. Ashiquir Rahaman, Maksuda Begum, Md. Atikur Rahaman, Md. Abdul Baqui, Zeena Salwa, Serajul Islam, Marc Woodbury‐Smith, Mohammed Basiruzzaman, Mohammed Uddin   +14 more
doaj   +3 more sources

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder. [PDF]

Int J Mol Sci
Heterozygous mutations in the FOXP1 gene (OMIM#605515) are responsible for a well-characterized neurodevelopmental syndrome known as “intellectual developmental disorder with language impairment with or without autistic features” (OMIM#613670) or FOXP1 ...
Zsigmond A, Till Á, Bene J, Czakó M, Mikó A, Hadzsiev K.   +5 more
europepmc   +2 more sources

Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma

Frontiers in Pediatrics, 2022
We report a rare case of bilateral HCG-secreting gonadoblastomas (Gb) in a 5.25-year-old girl of 45, X Turner syndrome (TS) with gonadal Y chromosome mosaicism. The clinical data were summarized, and the literatures were reviewed.
Rujiang Zheng, Qiuli Chen, Huamei Ma, Juncheng Liu, Huadong Chen, Jianbo Liang, Hongshan Chen, Jun Zhang, Yanhong Li, Song Guo, Bing Wang, Minlian Du   +11 more
doaj   +2 more sources

Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism. [PDF]

JCEM Case Rep, 2023
Abstract Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in early infancy. Mutations in the gene for heterozygous hepatocyte nuclear transcription factor 4-alpha (HNF4A) account for approximately 5% of cases and are inherited in an autosomal dominant fashion or arise as de novo mutations.
Wolschendorf R, Eimicke T, Swartz J.
europepmc   +3 more sources

Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders. [PDF]

Prenat Diagn, 2017
Non-invasive prenatal diagnosis (NIPD) holds great promise to increase the options for women seeking prenatal testing, as it combines the benefits of earlier sampling in pregnancy with absence of procedure-related risk to the fetus.
Wilkie AOM, Goriely A.
europepmc   +2 more sources