scholarly journals De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

2016 ◽  
Vol 99 (3) ◽  
pp. 720-727 ◽  
Author(s):  
Mari J. Tokita ◽  
Alicia A. Braxton ◽  
Yunru Shao ◽  
Andrea M. Lewis ◽  
Marie Vincent ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Malformations ◽  
De Novo ◽  
Failure To Thrive

scholarly journals 15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature Review

2020 ◽  
Author(s):  
Yahya BENBOUCHTA ◽  
Nicole de Leeuw ◽  
Saadia Amasdl ◽  
Aziza Sbiti ◽  
Dominique Smeets ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Postnatal Growth ◽  
Growth Restriction ◽  
Septal Defects ◽  
Aortic Arch Anomaly ◽  
Divergent Strabismus ◽  
Heart Defect

Abstract Background 15q26 deletion is a relatively rare chromosomal disorder described in only few cases. Patients with this aberration display numerous symptoms particularly, pre- and postnatal growth restriction, microcephaly, intellectual disability, dysmorphic gestalt and various congenital malformations. Case presentation We report on a girl, four years old, of consanguineous parents, with a de novo 15q26 deletion. Clinical manifestations included failure to thrive, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits and protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, varus equine right foot and left club foot. Additionally, she had teething delay and divergent strabismus. Heart ultrasound displayed a left-to-right shunt, two atrial septal defects, enlarging the right heart cavities. Routine cytogenetic analysis revealed a shortened 15 chromosome with an abnormally short ened long (q) arm. Subsequent array analysis disclosed a terminal 9.15 Mb deletions detected in band 15q26.1-q26.3. Five candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, MEF2A, MCTP2, and CHD2.Conclusion 15q26 monosomy should be considered when growth retardation is associated with ear anomaly, clinodactyly and/or abnormal toe, heart defect mainly atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).

scholarly journals Pericentric Inversion of Chromosome 1 in a Child with Low Height: Diagnostic Dilemmas

2018 ◽  
Vol 3 (5) ◽  
Keyword(s):  
Pericentric Inversion ◽  
Congenital Malformations ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Failure To Thrive ◽  
Chromosome 1 ◽  
De Novo Mutation ◽  
Cytogenetic Testing ◽  
The Individual ◽  
Do So

The inversions are one of the most common chromosomal abnormalities. They occur when two breaks occur in a chromosome; the segment as well originated is reversed and becomes the reintegration on the same chromosome. Generally, an inversion does not cause an abnormal phenotype in the carrier, but it can do so in their offspring. Which sometimes can be associated with cases of mental retardation, congenital malformations or infertility. It is critical to determine if the inversion has a family origin, where there usually is no risks for the individual, or if it is a de novo mutation, the risk is somewhat higher, possibly due to the interruption of a key sequence of the gene. The pericentric inversion of chromosome 1 is one of the structural chromosomal variations that are not common, and it has been observed in general population and patients with abnormal phenotypes and disease. We report the case of a child that came to the office for presenting a failure to thrive every year; the cytogenetic testing reported an inversion of chromosome 1 without maternal origin nor paternal. In this case, there is no evidence that low height has relation with the abnormal chromosome.

scholarly journals 15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature Review

2020 ◽  
Author(s):  
Yahya BENBOUCHTA ◽  
Nicole de Leeuw ◽  
Saadia Amasdl ◽  
Aziza Sbiti ◽  
Dominique Smeets ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Postnatal Growth ◽  
Growth Restriction ◽  
Aortic Arch Anomaly ◽  
Divergent Strabismus ◽  
Heart Defect ◽  
Defect Growth

Abstract Background 15q26 deletion is a relatively rare chromosomal disorder described in only few cases. Patients with this aberration display numerous symptoms particularly pre- and postnatal growth restriction, microcephaly, intellectual disability, dysmorphic gestalt, and various congenital malformations. Case presentation We report on a girl, four years old, of consanguineous parents, with a de novo 15q26 deletion. Clinical manifestations included failure to thrive, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits, protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, right foot varus equine, and left club foot. Additionally, she had teething delay and divergent strabismus. Further clinical investigations showed right-to-left atrial shunting, and enlarged right heart. Routine cytogenetic analysis revealed a derivative 15 chromosome with an abnormally short long (q) arm. Subsequent array analysis disclosed a terminal 9.15 Mb deletion detected in band 15q26.1q26.3. Five candidate genes causing the phenotype were within the deleted region, i.e. IGF1R, NR2F2, MEF2A, MCTP2, and CHD2. Conclusion 15q26 monosomy should be considered when growth retardation is associated with ear anomaly, clinodactyly and/or abnormal toe, heart defect mainly atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).

scholarly journals A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Giada Moresco ◽  
Jole Costanza ◽  
Carlo Santaniello ◽  
Ornella Rondinone ◽  
Federico Grilli ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Clinical Presentation ◽  
De Novo ◽  
Clinical Signs ◽  
Missense Variant ◽  
Psychomotor Development ◽  
Helicase Domain ◽  
Protein Activity ◽  
Mrna Metabolism ◽  
Pathogenic Variants

Abstract Background De novo pathogenic variants in the DDX3X gene are reported to account for 1–3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation, which includes neurological and behavioral defects, and abnormal brain MRIs. Case presentation We report a 10-year-old girl affected by delayed psychomotor development, delayed myelination, and polymicrogyria (PMG). We identified a novel de novo missense mutation in the DDX3X gene (c.625C > G) by whole exome sequencing (WES). The DDX3X gene encodes a DEAD-box ATP-dependent RNA-helicase broadly implicated in gene expression through regulation of mRNA metabolism. The identified mutation is located just upstream the helicase domain and is suggested to impair the protein activity, thus resulting in the altered translation of DDX3X-dependent mRNAs. The proband, presenting with the typical PMG phenotype related to the syndrome, does not show other clinical signs frequently reported in presence of missense DDX3X mutations that are associated with a most severe clinical presentation. In addition, she has brachycephaly, never described in female DDX3X patients, and macroglossia, that has never been associated with the syndrome. Conclusions This case expands the knowledge of DDX3X pathogenic variants and the associated DDX3X syndrome phenotypic spectrum.

Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

Gene ◽  
2013 ◽  
Vol 516 (1) ◽  
pp. 158-161 ◽  
Author(s):  
Miroslava Hancarova ◽  
Sarka Vejvalkova ◽  
Marie Trkova ◽  
Jana Drabova ◽  
Alzbeta Dleskova ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Microdeletion Syndrome

scholarly journals De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

2013 ◽  
Vol 93 (1) ◽  
pp. 124-131 ◽  
Author(s):  
Anne Gregor ◽  
Martin Oti ◽  
Evelyn N. Kouwenhoven ◽  
Juliane Hoyer ◽  
Heinrich Sticht ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
De Novo Mutations

IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep

2021 ◽  
Author(s):  
Evan Jiang ◽  
Mark P. Fitzgerald ◽  
Katherine L. Helbig ◽  
Ethan M. Goldberg
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Synapse Formation ◽  
De Novo ◽  
Interleukin 1 ◽  
Autism Spectrum ◽  
Neurological Dysfunction ◽  
Behavioral Disorder ◽  
Clinical Genetic ◽  
Severe Intellectual Disability

AbstractInterleukin-1 receptor accessory protein-like 1 (IL1RAPL1) encodes a protein that is highly expressed in neurons and has been shown to regulate neurite outgrowth as well as synapse formation and synaptic transmission. Clinically, mutations in or deletions of IL1RAPL1 have been associated with a spectrum of neurological dysfunction including autism spectrum disorder and nonsyndromic X-linked developmental delay/intellectual disability of varying severity. Nearly all reported cases are in males; in the few reported cases involving females, the clinical presentation was mild or the deletion was identified in phenotypically normal carriers in accordance with X-linked inheritance. Using genome-wide microarray analysis, we identified a novel de novo 373 kb interstitial deletion of the X chromosome (Xp21.1-p21.2) that includes exons 4 to 6 of the IL1RAPL1 gene in an 8-year-old girl with severe intellectual disability and behavioral disorder with a history of developmental regression. Overnight continuous video electroencephalography revealed electrical status epilepticus in sleep (ESES). This case expands the clinical genetic spectrum of IL1RAPL1-related neurodevelopmental disorders and highlights a new genetic association of ESES.

scholarly journals A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: A Case Report and Literature Review

2021 ◽  
Author(s):  
Ying Zhang ◽  
Yanyan Nie ◽  
Yu Mu ◽  
Jie Zheng ◽  
Xiaowei Xu ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Mental Disorders ◽  
De Novo ◽  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
De Novo Mutation ◽  
Loss Of Function ◽  
Bioinformatics Analyses ◽  
Whole Exome ◽  
De Novo Variant

Abstract Background：The pathogenic variation of CASK gene can cause CASK related mental disorders. The main clinical manifestations are microcephaly with pontine and cerebellar hypoplasia, X-linked mental disorders with or without nystagmus and FG syndrome. The main pathogenic mechanism is the loss of function of related protein caused by mutation. We reported a Chinese male newborn with a de novo variant in CASK gene. Case presentation：We present an 18-day-old baby with intellectual disability and brain hypoplasia. Whole-exome sequencing was performed, which detected a hemizygous missense mutation c.764G>A of CASK gene. The mutation changed the 255th amino acid from Arg to His. Software based bioinformatics analyses were conducted to infer its functional effect.Conclusions：In this paper, a de novo mutation of CASK gene was reported. Moreover, a detailed description of all the cases described in the literature is reported.CASK mutations cause a variety of clinical phenotypes. Its diagnosis is difficult due to the lack of typical clinical symptoms. Genetic testing should be performed as early as possible if this disease is suspected. This case provides an important reference for the diagnosis and treatment of future cases.

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