Exonic deletion of OPHN1 resulting in seizures, intellectual disability, and brain malformations

Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?

Cytogenetic and Genome Research ◽

10.1159/000521225 ◽

2022 ◽

pp. 1-8

Author(s):

Liliana Fernández Hernández ◽

Miguel A. Alcántara Ortigoza ◽

Sandra E. Ramos Angeles ◽

Ariadna González-del Angel

Keyword(s):

Intellectual Disability ◽

Sanger Sequencing ◽

Cleft Lip ◽

De Novo ◽

Deletion Syndrome ◽

Facial Dysmorphism ◽

Brain Malformations ◽

Bilateral Cleft Lip ◽

Cleft Lip Palate ◽

Distinctive Phenotype

5q14.3 deletion syndrome (MIM#613443) is an uncommon but well-known syndrome characterized by intellectual disability, epilepsy, hypotonia, brain malformations, and facial dysmorphism. Most patients with this syndrome have lost one copy of the MEF2C gene (MIM*600662), whose haploinsufficiency is considered to be responsible for the distinctive phenotype. To date, nearly 40 cases have been reported; the deletion size and clinical spectrum are variable, and at least 6 cases without MEF2C involvement have been documented. We herein report the clinical and cytogenomic findings of an 11-year-old girl who has a 5q14.3q21.1 de novo deletion that does not involve MEF2C but shares the clinical features described in other reported patients. Moreover, she additionally presents with bilateral cleft-lip palate (CLP), which has not been previously reported as a feature of the syndrome. The most frequent syndromic forms of CLP were ruled out in our patient mainly by clinical examination, and Sanger sequencing was performed to discard the presence of a TBX22 gene (MIM*300307) defect. Our report suggests CLP as a possible unreported feature and redefines the critical phenotypic regions of 5q14.3 deletion syndrome.

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Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions

Molecular Syndromology ◽

10.1159/000501008 ◽

2019 ◽

Vol 10 (4) ◽

pp. 202-208 ◽

Cited By ~ 1

Author(s):

Marcela D. Hanna ◽

Patricia N. Moretti ◽

Claudiner P. de Oliveira ◽

Maria T. A. Rosa ◽

Beatriz R. Versiani ◽

...

Keyword(s):

Intellectual Disability ◽

Critical Region ◽

Brain Malformations

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Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum

Journal of Child Neurology ◽

10.1177/0883073816664668 ◽

2016 ◽

Vol 32 (1) ◽

pp. 60-71 ◽

Cited By ~ 19

Author(s):

Romina Romaniello ◽

Susan Marelli ◽

Roberto Giorda ◽

Maria F. Bedeschi ◽

Maria C. Bonaglia ◽

...

Keyword(s):

Intellectual Disability ◽

Corpus Callosum ◽

Genetic Diagnosis ◽

Language Disorders ◽

Agenesis Of Corpus Callosum ◽

Brain Malformations ◽

Genetic Features ◽

Long Term Follow Up

To gain a better understanding of the clinical and genetic features associated with agenesis of corpus callosum, we enrolled and characterized 162 patients with complete or partial agenesis of corpus callosum. Clinical and genetic protocols allowed us to categorize patients as syndromic subjects, affected by complex extra-brain malformations, and nonsyndromic subjects without any additional anomalies. We observed slight differences in sex ratio (56% males) and agenesis type (52% complete). Syndromic agenesis of corpus callosum subjects were prevalent (69%). We detected associated cerebral malformations in 48% of patients. Neuromotor impairment, cognitive and language disorders, and epilepsy were frequently present, regardless of the agenesis of corpus callosum subtype. Long-term follow-up allowed us to define additional indicators: syndromic agenesis of corpus callosum plus patients showed the most severe clinical features while isolated complete agenesis of corpus callosum patients had the mildest symptoms, although we observed intellectual disability (64%) and epilepsy (15%) in both categories. We achieved a definitive (clinical and/or genetic) diagnosis in 42% of subjects.

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Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

10.32388/9j646y ◽

2020 ◽

Author(s):

Keyword(s):

Intellectual Disability ◽

Facial Dysmorphism ◽

Brain Malformations

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The Effects of 6q26-q27 Terminal Deletion on Intellectual Disability Brain Malformations and the Genotype/Phenotype Relationship: A Case Report

Nöro Psikiyatri Arşivi ◽

10.29399/npa.27797 ◽

2021 ◽

Author(s):

Veysel özdağ ◽

Yaşar Tanır

Keyword(s):

Case Report ◽

Intellectual Disability ◽

Terminal Deletion ◽

Brain Malformations

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Normocentric biases taint cognitive neuroscience and intervention of autism

Behavioral and Brain Sciences ◽

10.1017/s0140525x18002297 ◽

2019 ◽

Vol 42 ◽

Cited By ~ 1

Author(s):

Laurent Mottron

Keyword(s):

Intellectual Disability ◽

Cognitive Neuroscience ◽

Social Motivation ◽

Repetitive Behaviors ◽

Restricted Interests ◽

Autistic People

Abstract Stepping away from a normocentric understanding of autism goes beyond questioning the supposed lack of social motivation of autistic people. It evokes subversion of the prevalence of intellectual disability even in non-verbal autism. It also challenges the perceived purposelessness of some restricted interests and repetitive behaviors, and instead interprets them as legitimate exploratory and learning-associated manifestations.

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