Results 1 to 10 of about 43,167 (288)

X-linked intellectual disability related to a novel variant of KLHL15 [PDF]

Human Genome Variation, 2023
Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who presented with ...
Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura   +7 more
doaj   +4 more sources

Challenges in molecular diagnosis of X-linked Intellectual disability [PDF]

British Medical Bulletin, 2020
Abstract Background Intellectual disability (ID) affects 1–3% of the Western population and is heterogeneous in origin. Mutations in X-linked genes represent 5–10% of ID in males. Fragile X syndrome, due to the silencing of the FMR1 gene, is the most common form of ID, with a prevalence of around 1 ...
Chiara De Luca, Valerie Race, Liesbeth Keldermans   +2 more
exaly   +4 more sources

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation [PDF]

Frontiers in Cell and Developmental Biology, 2021
BackgroundX-linked intellectual disability (XLID), which occurs predominantly in males, is a relatively common and genetically heterogeneous disorder in which over 100 mutated genes have been reported.
Ken Saida, Tokiko Fukuda, Daryl A. Scott, Daryl A. Scott, Daryl A. Scott, Toru Sengoku, Kazuhiro Ogata, Annarita Nicosia, Annarita Nicosia, Andres Hernandez-Garcia, Seema R. Lalani, Seema R. Lalani, Mahshid S. Azamian, Haley Streff, Haley Streff, Pengfei Liu, Pengfei Liu, Hongzheng Dai, Hongzheng Dai, Takeshi Mizuguchi, Satoko Miyatake, Miki Asahina, Tsutomu Ogata, Noriko Miyake, Naomichi Matsumoto   +24 more
doaj   +2 more sources

Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability [PDF]

Frontiers in Neurology, 2023
ObjectiveThe dysfunction of the CLCN4 gene can lead to X-linked intellectual disability and Raynaud–Claes syndrome (MRXSRC), characterized by severe cognitive impairment and mental disorders.
Sinan Li, Wenxin Zhang, Piao Liang, Min Zhu, Bixia Zheng, Wei Zhou, Chunli Wang, Xiaoke Zhao   +7 more
doaj   +2 more sources

O-GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability [PDF]

Frontiers in Genetics, 2020
Cellular identity in multicellular organisms is maintained by characteristic transcriptional networks, nutrient consumption, energy production and metabolite utilization.
Daniel Konzman, Lara K. Abramowitz, Agata Steenackers, Mana Mohan Mukherjee, Hyun-Jin Na, John A. Hanover   +5 more
doaj   +2 more sources

Seizures and X-linked intellectual disability [PDF]

European Journal of Medical Genetics, 2012
Intellectual disability occurs as an isolated X-linked trait and as a component of recognizable X-linked syndromes in the company of somatic, metabolic, neuromuscular, or behavioral abnormalities. Seizures accompany intellectual disability in almost half of these X-linked disorders. The spectrum of seizures found in the X-linked intellectual disability
Roger E Stevenson, Kenton R Holden, R Curtis Rogers   +2 more
exaly   +3 more sources

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report [PDF]

BMC Pediatrics, 2021
Background The Raynaud-Claes type of X-linked syndromic mental retardation (MRXSRC) is a very rare condition, by intellectual disability ranged from borderline to profound, impaired language development, brain abnormalities, facial dysmorphisms and ...
Xin Xu, Fen Lu, Li Zhang, Hongying Li, Senjie Du, Jian Tang   +5 more
doaj   +2 more sources

Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy [PDF]

Frontiers in Molecular Neuroscience, 2022
Early/late endosomes, recycling endosomes, and lysosomes together form the endo-lysosomal recycling pathway. This system plays a crucial role in cell differentiation and survival, and dysregulation of the endo-lysosomal system appears to be important in ...
Raul E. Guzman, Juan Sierra-Marquez, Stefanie Bungert-Plümke, Arne Franzen, Christoph Fahlke   +4 more
doaj   +2 more sources

UBE2A-related X-linked intellectual disability. [PDF]

Clin Dysmorphol, 2019
UBE2A-related X-linked intellectual disability is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth, and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual ...
Stevenson RE, Chudley AE, Srivastava AK, Rodriguez J, Friez MJ, Schwartz CE.   +5 more
europepmc   +4 more sources

X-linked intellectual disability update 2017. [PDF]

Am J Med Genet A, 2018
The X‐chromosome comprises only about 5% of the human genome but accounts for about 15% of the genes currently known to be associated with intellectual disability. The early progress in identifying the X‐linked intellectual disability (XLID)‐associated genes through linkage analysis and candidate gene sequencing has been accelerated with the use of ...
Neri G, Schwartz CE, Lubs HA, Stevenson RE.   +3 more
europepmc   +4 more sources