A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX

2014 ◽  
Vol 59 (7) ◽  
pp. 408-410 ◽  
Author(s):  
Hiroko Shimbo ◽  
Shinsuke Ninomiya ◽  
Kenji Kurosawa ◽  
Takahito Wada
Keyword(s):  
Case Report ◽  
Somatic Mosaicism ◽  
Intragenic Deletion

scholarly journals Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

2006 ◽  
Vol 7 (1) ◽  
Author(s):  
Guillaume de la Houssaye ◽  
Ivan Bieche ◽  
Olivier Roche ◽  
Véronique Vieira ◽  
Ingrid Laurendeau ◽  
...  
Keyword(s):  
Case Report ◽  
Rieger Syndrome ◽  
Intragenic Deletion ◽  
Pitx2 Gene

Unilateral Coats’-like disease and an intragenic deletion in the TERC gene: A case report

2017 ◽  
Vol 39 (2) ◽  
pp. 247-250 ◽  
Author(s):  
G. Peene ◽  
E. Smets ◽  
E. Legius ◽  
C. Cassiman
Keyword(s):  
Case Report ◽  
Intragenic Deletion

scholarly journals Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report

2011 ◽  
Vol 12 (1) ◽  
Author(s):  
Giovana T Torrezan ◽  
Felipe CC da Silva ◽  
Ana CV Krepischi ◽  
Érika MM Santos ◽  
Fábio de O Ferreira ◽  
...  
Keyword(s):  
Case Report ◽  
Patient Case ◽  
Intragenic Deletion

De novo intragenic deletion of theautism susceptibility candidate 2(AUTS2) gene in a patient with developmental delay: A case report and literature review

2013 ◽  
Vol 161 (6) ◽  
pp. 1508-1512 ◽  
Author(s):  
Alexandra Jolley ◽  
Mark Corbett ◽  
Lesley McGregor ◽  
Wendy Waters ◽  
Susan Brown ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
De Novo ◽  
Intragenic Deletion

scholarly journals A Rare Syndrome of GRID2 Deletion in 2 Siblings

2017 ◽  
Vol 4 ◽  
pp. 2329048X1772616 ◽  
Author(s):  
Aravindhan Veerapandiyan ◽  
Stephanie Enner ◽  
Venkatraman Thulasi ◽  
Xue Ming
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Purkinje Cells ◽  
Glutamate Receptor ◽  
Clinical Syndrome ◽  
Exon 2 ◽  
Rare Syndrome ◽  
Intragenic Deletion ◽  
Cerebellar Purkinje Cells ◽  
Tonic Upward Gaze

The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia. They were found to have a homozygous intragenic deletion within the Glutamate receptor, ionotropic, delta 2 gene at exon 2. Our patients serve as an addition to the literature of previously reported children with this rare clinical syndrome associated with Glutamate receptor, ionotropic, delta 2 deletion.

Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report

2021 ◽  
pp. 1-4
Author(s):  
Minh-Tuan Huynh ◽  
Cong Toai Tran ◽  
Madeleine Joubert ◽  
Claire Bénéteau
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Clinical Features ◽  
Behavioral Problems ◽  
Gene Deletion ◽  
De Novo ◽  
Underlying Disease ◽  
Disease Mechanism ◽  
Intragenic Deletion

Submicroscopic 10p15.3 microdeletions were previously reported to be associated with developmental delay, and the smallest region of overlap of 10p15.3 deletion including <i>DIP2C</i> and <i>ZMYND11</i> was defined. Moreover, pathogenic <i>ZMYND11</i> truncating variants were subsequently identified in a cohort of patients with developmental delay. Of interest, patients harboring 10p15.3 microdeletions or pathogenic <i>ZMYND11</i> truncating variants share similar clinical features including hypotonia, intellectual disability, facial dysmorphisms, speech and motor delays, seizures, and significant behavioral problems. Only 1 patient with whole <i>ZMYND11</i> gene deletion was recorded, and no intragenic <i>ZMYND11</i> deletion was reported up to date. Here, we describe a 7-year-old boy with developmental delay, carrying the smallest de novo 10p15.3 microdeletion, harboring the 5′UTR and the first 2 exons of <i>ZMYND11.</i> Taken together, our report contributes to expand the clinical and mutational spectrum of <i>ZMYND11</i> and confirms haploinsufficiency as the underlying disease mechanism.

scholarly journals A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report

2020 ◽  
Vol 9 (5) ◽  
pp. 7-7
Author(s):  
Eun Hui Bae ◽  
Jong Moon Choi ◽  
Chang Seok Ki ◽  
Seong Kwon Ma ◽  
Han-Wook Yoo ◽  
...  
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Late Onset ◽  
Somatic Mosaicism ◽  
Disease Patient ◽  
Fabry Disease Patient
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