| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ziwei Wang, Chuang Li, Yan Zhao, Ling Li, Yuan Lyu, Hong Cu. [Clinical and genetic analysis of a child with mental retardation and microcephaly with pontine and cerebellar hypoplasia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 38. issue 10. 2021-10-12. PMID:34625938. |
to analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (micpch). |
2021-10-12 |
2023-08-13 |
Not clear |
| Preetinanda Parida, Aranya Dubbudu, Seba Ranjan Biswal, Indar Kumar Sharawat, Prateek Kumar Pand. Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD. Brain & development. vol 43. issue 2. 2021-10-05. PMID:33092935. |
additional features may include postnatal microcephaly, peripheral neuropathy, facial dysmorphism, and cerebellar atrophy. |
2021-10-05 |
2023-08-13 |
Not clear |
| Yosuke Nishio, Hiroyuki Kidokoro, Toshiki Takeo, Hajime Narita, Fumi Sawamura, Kotaro Narita, Yoshihiko Kawano, Tomohiko Nakata, Hideki Muramatsu, Shinya Hara, Tadashi Kaname, Jun Natsum. The eldest case of MICPCH with CASK mutation exhibiting gross motor regression. Brain & development. vol 43. issue 3. 2021-10-04. PMID:33272775. |
we describe the detailed clinical history of a woman with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (micpch) with a cask mutation who exhibited gross motor regression after adolescence. |
2021-10-04 |
2023-08-13 |
Not clear |
| Harikiran Nistala, John Dronzek, Claudia Gonzaga-Jauregui, Shek Man Chim, Saathyaki Rajamani, Samer Nuwayhid, Dennis Delgado, Elizabeth Burke, Ender Karaca, Matthew C Franklin, Prasad Sarangapani, Michael Podgorski, Yajun Tang, Melissa G Dominguez, Marjorie Withers, Ron A Deckelbaum, Christopher J Scheonherr, William A Gahl, May C Malicdan, Brian Zambrowicz, Nicholas W Gale, Richard A Gibbs, Wendy K Chung, James R Lupski, Aris N Economide. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Human molecular genetics. vol 29. issue 21. 2021-09-28. PMID:33105479. |
microcephaly, progressive cortical atrophy, cerebellar hypoplasia and delayed myelination are neurological hallmarks in affected individuals. |
2021-09-28 |
2023-08-13 |
mouse |
| Shruti Pande, Periyasamy Radhakrishnan, Naveenchandra M Shetty, Anju Shukla, Katta M Girish. Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. American journal of medical genetics. Part A. vol 185. issue 9. 2021-09-03. PMID:33749989. |
microcephaly, small cerebellar vermis, holoprosencephaly, agenesis of corpus callosum, intellectual disability, short stature, skeletal dysplasia, microphthalmia-anophthalmia, and sex reversal constitute the phenotypic spectrum of this condition with variable expression. |
2021-09-03 |
2023-08-13 |
Not clear |
| Noelle Sterling, Anna R Duncan, Raehee Park, David A Koolen, Jiahai Shi, Seo-Hee Cho, Paul J Benke, Patricia E Grant, Casie A Genetti, Grace E VanNoy, Jane Juusola, Kirsty McWalter, Jillian S Parboosingh, Ryan E Lamont, Francois P Bernier, Christopher Smith, David J Harris, Alexander P A Stegmann, A Micheil Innes, Seonhee Kim, Pankaj B Agrawa. De novo variants in MPP5 cause global developmental delay and behavioral changes. Human molecular genetics. vol 29. issue 20. 2021-08-30. PMID:33073849. |
in the het cko model, mpp5 depletion led to microcephaly, decreased cerebellar volume and cortical thickness. |
2021-08-30 |
2023-08-13 |
mouse |
| Daniel G Calame, Isabella Herman, Jawid M Fatih, Haowei Du, Gulsen Akay, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dianna M Milewicz, Richard A Gibbs, Jennifer E Posey, Dana Marafi, Jill V Hunter, Yuxin Fan, James R Lupski, Christina Y Miyak. Risk of sudden cardiac death in EXOSC5-related disease. American journal of medical genetics. Part A. vol 185. issue 8. 2021-08-25. PMID:34089229. |
here, we provide a detailed clinical and molecular characterization of two siblings with microcephaly, developmental delay, cerebellar volume loss, hypomyelination, with cardiac conduction and rhythm abnormalities including sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia (vt) due to compound heterozygous variants in exosc5: (1) nm_020158.4:c.341c > t (p.thr114ile; pathogenic, previously reported) and (2) nm_020158.4:c.302c > a (p.thr101lys; novel variant). |
2021-08-25 |
2023-08-13 |
Not clear |
| Gayatri Nerakh, K Mounika, K Geeta, Hima Bindu Nallur. CEP135 associated primary microcephaly-A rare presentation in early second trimester. European journal of medical genetics. vol 64. issue 7. 2021-08-10. PMID:33933664. |
the present report is of a case of second gravid patient with recurrent fetal microcephaly with agenesis of corpus callosum, cerebellar hypoplasia and ventriculomegaly. |
2021-08-10 |
2023-08-13 |
Not clear |
| Rachel Rabin, Yoel Hirsch, Martin M Johansson, Joseph Ekstein, Ahron Ekstein, John Pappa. Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population. American journal of medical genetics. Part A. vol 185. issue 5. 2021-08-09. PMID:33682303. |
three individuals were compound heterozygous for the p.(cys51trp) and p.(val55ala) variants and presented with profound developmental delays, microcephaly, intractable epilepsy, and cerebellar hypoplasia. |
2021-08-09 |
2023-08-13 |
Not clear |
| Chaomei Xiang, Karla K Frietze, Yingtao Bi, Yanwen Li, Valentina Dal Pozzo, Sharmistha Pal, Noah Alexander, Valerie Baubet, Victoria D'Acunto, Christopher E Mason, Ramana V Davuluri, Nadia Dahman. RP58 Represses Transcriptional Programs Linked to Nonneuronal Cell Identity and Glioblastoma Subtypes in Developing Neurons. Molecular and cellular biology. vol 41. issue 7. 2021-07-20. PMID:33903225. |
we have previously shown that loss of rp58 (znf238 or zbtb18), a btb/poz-zinc finger-containing transcription factor, in the mouse brain leads to microcephaly, corpus callosum agenesis, and cerebellum hypoplasia and that it is required for normal neuronal differentiation. |
2021-07-20 |
2023-08-13 |
mouse |
| Erina Sasaki, Angela T Byrne, Dylan J Murray, William Reardo. Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis. American journal of medical genetics. Part A. vol 182. issue 12. 2021-06-24. PMID:32975022. |
zic1 related clinical conditions are reported and include cerebellum malformation, dandy-walker malformation, spinal dysraphism, microcephaly, and craniosynostosis with associated intellectual disability. |
2021-06-24 |
2023-08-13 |
human |
| Susanna Rizzi, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Stefano Giuseppe Caraffi, Gabriele Trimarchi, Claudio Moratti, Rosario Pascarella, Livia Garavelli, Carlo Fusc. Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review. American journal of medical genetics. Part A. vol 182. issue 11. 2021-06-21. PMID:32875707. |
severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(p139l) of the camk2b gene: a case report and brief review. |
2021-06-21 |
2023-08-13 |
Not clear |
| Susanna Rizzi, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Stefano Giuseppe Caraffi, Gabriele Trimarchi, Claudio Moratti, Rosario Pascarella, Livia Garavelli, Carlo Fusc. Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review. American journal of medical genetics. Part A. vol 182. issue 11. 2021-06-21. PMID:32875707. |
this case report describes a 22-year-old patient with this recurrent variant, who presents with severe intellectual disability, absence of language, hypotonia, microcephaly, dysmorphic features, epilepsy, behavioral abnormalities, motor stereotypies, optic atrophy, and progressive cerebellar atrophy. |
2021-06-21 |
2023-08-13 |
Not clear |
| b' Irene Valenzuela, Marta Codina, Paula Fern\\xc3\\xa1ndez-\\xc3\\x81lvarez, Pilar Mur, Laura Valle, Eduardo F Tizzano, Ivon Cusc\\xc3\\xb. Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1. American journal of medical genetics. Part A. vol 182. issue 11. 2021-06-21. PMID:32896090.' |
cerebellofaciodental syndrome (mim #616202) is an autosomal recessive condition characterized by intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features, and short stature. |
2021-06-21 |
2023-08-13 |
Not clear |
| Jonathan R Reinwald, Alexander Sartorius, Wolfgang Weber-Fahr, Markus Sack, Robert Becker, Michael Didriksen, Tine B Stensbøl, Adam J Schwarz, Andreas Meyer-Lindenberg, Natalia Gas. Separable neural mechanisms for the pleiotropic association of copy number variants with neuropsychiatric traits. Translational psychiatry. vol 10. issue 1. 2021-06-18. PMID:32170065. |
instead, morphometric analyses revealed microcephaly in 1q21.1 and macrocephaly in 15q13.3 deletions, whereas cerebellar volume was specifically reduced in 22q11.2 deletion. |
2021-06-18 |
2023-08-13 |
mouse |
| Yingzhou Edward Pan, Debora Tibbe, Frederike Leonie Harms, Carsten Reißner, Kerstin Becker, Bri Dingmann, Ghayda Mirzaa, Anja A Kattentidt-Mouravieva, Moneef Shoukier, Shagun Aggarwal, Markus Missler, Kerstin Kutsche, Hans-Jürgen Kreienkam. Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization. Journal of neurochemistry. vol 157. issue 4. 2021-06-17. PMID:33090494. |
mutations in the x-linked gene coding for the calcium-/calmodulin-dependent serine protein kinase (cask) are associated with severe neurological disorders ranging from intellectual disability (in males) to mental retardation and microcephaly with pontine and cerebellar hypoplasia. |
2021-06-17 |
2023-08-13 |
Not clear |
| Marianna Farnè, Giovanna M Tedesco, Chiara Bedetti, Amedea Mencarelli, Daniela Rogaia, Davide Colavito, Giuseppe Di Cara, Gabriela Stangoni, Stefania Troiani, Alessandra Ferlini, Paolo Pronter. A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile. American journal of medical genetics. Part A. vol 182. issue 10. 2021-06-01. PMID:32744787. |
mutations in the mboat7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [id], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. |
2021-06-01 |
2023-08-13 |
Not clear |
| Aurélien Trimouille, Florent Marguet, Fanny Sauvestre, Eulalie Lasseaux, Fanny Pelluard, Marie-Laure Martin-Négrier, Claudio Plaisant, Caroline Rooryck, Didier Lacombe, Benoît Arveiler, Odile Boespflug-Tanguy, Sophie Naudion, Annie Laquerrièr. Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination. Acta neuropathologica communications. vol 8. issue 1. 2021-05-31. PMID:32293553. |
neuropathological examination confirmed microcephaly with delayed gyration, periventricular pseudo-cysts and severe cerebellar hypoplasia. |
2021-05-31 |
2023-08-13 |
Not clear |
| María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, María de Los Ángeles Gómez-Cano, Ana Martínez de Aragón, Elena Martín-Hernández, Francisco Martínez-Azorí. MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia. American journal of medical genetics. Part A. vol 182. issue 6. 2021-01-28. PMID:32198973. |
only 12 patients have been identified worldwide with 10 different variants in this gene: six patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; two patients with microcephaly and cerebellar hypoplasia; two patients with autism, one patient with diplegia, and one patient with microcephaly and dysmorphism. |
2021-01-28 |
2023-08-13 |
Not clear |
| Fumika Kawano-Matsuda, Tomoki Maeda, Tadashi Kaname, Kumiko Yanagi, Kenji Ihar. X-linked mental retardation and severe short stature with a novel mutation of the Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. vol 30. issue 1. 2021-01-16. PMID:33446955. |
the boy at the age of 4 yr and 6 mo presented with remarkable growth failure (height: 76.5 cm [-6.3 sd]) and mental retardation (iq: 30) and cerebellar volume loss and without an external anomaly or microcephaly to our hospital. |
2021-01-16 |
2023-08-13 |
Not clear |