Results 1 to 10 of about 45,554 (278)

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   +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   +3 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   +3 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   +5 more sources

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature [PDF]

BMC Medical Genomics, 2023
Aim and Objective Intellectual disability (ID) is a heterogeneous condition affecting brain development, function, and/or structure. The X-linked mode of inheritance of ID (X-linked intellectual disability; XLID) has a prevalence of 1 out of 600 to 1000 ...
Atefeh Mir, Yongjun Song, Hane Lee, Hossein Khanahmad, Erfan Khorram, Jafar Nasiri, Mohammad Amin Tabatabaiefar   +6 more
doaj   +3 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   +3 more sources

Loss of Ftsj1 perturbs codon-specific translation efficiency in the brain and is associated with X-linked intellectual disability. [PDF]

Sci Adv, 2021
Defective tRNA 2′-O-modification impairs translation efficiency at Phe codon in the brain and induces a neurological dysfunction. FtsJ RNA 2′-O-methyltransferase 1 (FTSJ1) gene has been implicated in X-linked intellectual disability (XLID), but the ...
Nagayoshi Y, Chujo T, Hirata S, Nakatsuka H, Chen CW, Takakura M, Miyauchi K, Ikeuchi Y, Carlyle BC, Kitchen RR, Suzuki T, Katsuoka F, Yamamoto M, Goto Y, Tanaka M, Natsume K, Nairn AC, Suzuki T, Tomizawa K, Wei FY.   +19 more
europepmc   +2 more sources

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   +2 more sources

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. [PDF]

J Inherit Metab Dis, 2021
Pathogenic variants in ALG13 (ALG13 UDP‐N‐acetylglucosaminyltransferase subunit) cause an X‐linked congenital disorder of glycosylation (ALG13‐CDG) where individuals have variable clinical phenotypes that include developmental delay, intellectual ...
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK.   +25 more
europepmc   +2 more sources

Chromatin Sensing by the Auxiliary Domains of KDM5C Regulates Its Demethylase Activity and Is Disrupted by X-linked Intellectual Disability Mutations. [PDF]

J Mol Biol, 2023
The H3K4me3 chromatin modification, a hallmark of promoters of actively transcribed genes, is dynamically removed by the KDM5 family of histone demethylases.
Ugur FS, Kelly MJS, Fujimori DG.
europepmc   +2 more sources