Results 1 to 10 of about 8,531 (188)

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males [PDF]

BMC Medicine, 2023
Background Germline mosaicisms could be inherited to offspring, which considered as “de novo” in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously.
Yongxin Wen, Jiaping Wang, Qingping Zhang, Xiaoxu Yang, Liping Wei, Xinhua Bao   +5 more
doaj   +6 more sources

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants [PDF]

Molecular Genetics & Genomic Medicine, 2022
Background De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur pre‐zygotically in parental germ cells, the recurrence risk might be higher.
Kristina Lagerstedt-Robinson, Sofia Frisk, Fulya Taylan   +2 more
exaly   +3 more sources

Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism [PDF]

Frontiers in Genetics, 2022
Malan syndrome is an autosomal dominant disorder caused by pathogenic variants in NFIX with less than 100 cases reported thus far. NFIX is important for stem cell proliferation, quiescence, and differentiation during development and its protein plays a ...
Elizabeth Langley, Laura S. Farach, Kate Mowrey   +2 more
exaly   +4 more sources

Identification of paternal germline mosaicism by MicroSeq and targeted next‐generation sequencing [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Prezygotic de novo mutations may be inherited from parents with germline mosaicism and are often overlooked when the resulting phenotype affects only one child.
Congling Dai, Dehua Cheng, Qianjun Zhang   +2 more
exaly   +3 more sources

Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review [PDF]

Science Progress
Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder, typically inherited as an autosomal dominant condition. Here, we report on a family in which germline mosaicism for TCS was likely present.
Xinmiao Fan, Xiaowei Chen, Xiaoping Lu   +2 more
exaly   +3 more sources

Germline mosaicism in a family with MBD5 haploinsufficiency. [PDF]

Cold Spring Harb Mol Case Stud, 2022
Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene causes a neurodevelopmental disorder that includes intellectual disability, developmental delay, speech impairment, seizures, sleep disturbances, and behavioral difficulties. Microdeletion of 2q23.1 is the most common cause of haploinsufficiency, althoughMBD5haploinsufficiency ...
Bhatia M, Cavalleri GL, White M, Delanty N, Sweeney BJ, Costello DJ, Greally MT, Benson KA.   +7 more
europepmc   +3 more sources

Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level germline mosaicism related Nicolaides–Baraitser syndrome [PDF]

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, Jiexue Pan, Jiexue Pan, Jiexue Pan, Jie Li, Jie Li, Songchang Chen, Songchang Chen, Chenming Xu, Chenming Xu, Hefeng Huang, Hefeng Huang, Hefeng Huang, Li Jin, Li Jin   +14 more
doaj   +2 more sources

Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report [PDF]

International Journal of Reproductive BioMedicine, 2023
Background: Sex determining region Y box transcription factor 2 (SOX2) mutations lead to bilateral anophthalmia with autosomal dominant human inheritance.
Pooneh Nikuei, Ph.D., Zahra Khashavy, Mohammad Ali Farazi Fard, Shahrzad Tabasi4 Pharm.D. Student, Ari Zeidi5 B.Sc. Student, Parnian Pourkashani, Zahra Tabatabaei, Ebrahim Eftekhar, Mozhgan Saberi, Frouzandeh Mahjoubi   +10 more
doaj   +2 more sources

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye. [PDF]

Eur J Hum Genet, 2023
Microphthalmia, Anophthalmia and Coloboma (MAC) form a spectrum of congenital eye malformations responsible for severe visual impairment. Despite the exploration of hundreds of genes by High-Throughput Sequencing (HTS), most of the patients remain without genetic diagnosis.
Chesneau B, Ivashchenko V, Habib C, Gaston V, Escudié F, Morel G, Capri Y, Vincent-Delorme C, Calvas P, Chassaing N, Plaisancié J.   +10 more
europepmc   +5 more sources

Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns [PDF]

Case Reports in Genetics
Complete androgen insensitivity syndrome (CAIS) is caused by pathogenic variants in the androgen receptor (AR) gene that lead to a phenotypically female appearance in XY individuals. It is almost always inherited as an X-linked recessive condition. Here,
Lauren M. Iacono, Paul A. Levy, Tamar G. Baer   +2 more
doaj   +2 more sources