scholarly journals 16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature

2020 ◽  
Vol 8 ◽  
Author(s):  
Simona Bucerzan ◽  
Diana Miclea ◽  
Cecilia Lazea ◽  
Carmen Asavoaie ◽  
Andrea Kulcsar ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Short Stature ◽  
Developmental Delay ◽  
Review Of The Literature ◽  
Dysmorphic Features

Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature

2013 ◽  
Vol 161 (6) ◽  
pp. 1447-1452 ◽  
Author(s):  
Else la Cour Sibbesen ◽  
Cathrine Jespersgaard ◽  
Daniela Alosi ◽  
Anne-Marie Bisgaard ◽  
Zeynep Tümer
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Ring Chromosome ◽  
Chromosome 9 ◽  
Review Of The Literature ◽  
Dysmorphic Features

scholarly journals A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Natalie C. Lippa ◽  
Subit Barua ◽  
Vimla Aggarwal ◽  
Elaine Pereira ◽  
Jennifer M. Bain
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Short Stature ◽  
Developmental Delay ◽  
De Novo ◽  
Phenotypic Variability ◽  
Missense Variant ◽  
Global Developmental Delay ◽  
Related Disorder ◽  
Patient Reported

Abstract Background Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relatives were noted to have learning difficulties and mild intellectual disabilities, but full phenotypic descriptions were often incomplete. Recently, detailed phenotypic features of five affected females with de novo variants were described. (Clin Genet 98:43–55, 2020) Four individuals had a protein truncating variant and 1 individual had a missense variant. All five individuals had developmental delay/intellectual disability and three neurological features. Case presentation Here we report a three-year-old female with global developmental delay, hypotonia and ataxia. Through whole exome sequencing, a de novo c.1516A > G (p.Met506Val) variant in KDM5C was identified. This missense variant is in the jumonji-C domain of this multi domain protein where other missense variants have been previously reported in KDM5C related disorder. The KDM5C gene is highly intolerant to functional variation which suggests its pathogenicity. The probands motor delays and language impairment is consistent with other reported female patients with de novo variants in KDM5C. However, other features reported in females (distinctive facial features, skeletal abnormalities, short stature and endocrine features) were absent. To the best of our knowledge, our proband is the first female patient reported with a diagnosis of ataxia. Conclusions This case report provides evidence for an emerging and phenotypic variability that adds to the literature of the role of KDM5C in females with neurodevelopmental disorders as well as movement disorders.

scholarly journals Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Christophe GAULD ◽  
Alice POISSON ◽  
Julie REVERSAT ◽  
Elodie PEYROUX ◽  
Françoise HOUDAYER-ROBERT ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Cognitive Impairment ◽  
Case Report ◽  
Intellectual Disability ◽  
Social Cognition ◽  
Short Stature ◽  
Premature Stop Codon ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Dysmorphic Features

Abstract Background Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short stature. This phenotype is therefore associated with neurocognitive disturbances and social cognition, indicating potential functional maladjustment in the affected subjects, and a potentially significant impact on quality of life. Although many isolated cases have been reported in the literature, to date no families have been described. This case reports on a family (three generations) with a frameshift variant in the AUTS2 gene. Case presentation The proband is 13 years old with short stature, dysmorphic features, moderate intellectual disability and autism spectrum disorder. His mother is 49 years old and also has short stature and similar dysmorphic features. She does not have autism disorder but presents an erotomaniac delusion. Her cognitive performance is heterogeneous. The two aunts are also of short stature. The 50-year-old aunt has isolated social cognition disorders. The 45-year-old aunt has severe cognitive impairment and autism spectrum disorder. The molecular analysis of the three sisters and the proband shows the same AUTS2 heterozygous duplication leading to a frame shift expected to produce a premature stop codon, p.(Met593Tyrfs*85). Previously reported isolated cases revealed phenotypic and cognitive impairment variability. In this case report, these variabilities are present within the same family, presenting the same variant. Conclusions The possibility of a phenotypic spectrum within the same family highlights the need for joint psychiatry and genetics research.

Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

2018 ◽  
Vol 34 (2) ◽  
pp. 86-93 ◽  
Author(s):  
John C. Herriges ◽  
Ellen M. Arch ◽  
Pamela A. Burgio ◽  
Erin E. Baldwin ◽  
Danielle LaGrave ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Learning Difficulties ◽  
Growth Failure ◽  
Speech Delay ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Additional Insight ◽  
Dysmorphic Features ◽  
Phenotypic Spectrum ◽  
Insight Into

To date, 13 patients with interstitial microduplications involving Xq25q26.2 have been reported. Here, we report 6 additional patients from 2 families with duplications involving Xq25q26.2. Family I carries a 5.3-Mb duplication involving 26 genes. This duplication was identified in 3 patients and was associated with microcephaly, growth failure, developmental delay, and dysmorphic features. Family II carries an overlapping 791-kb duplication that involves 3 genes. This duplication was identified in 3 patients and was associated with learning disability and speech delay. The size and gene content of published overlapping Xq25q26.2 duplications vary, making it difficult to define a critical region or establish a genotype-phenotype correlation. However, patients with overlapping duplications have been found to share common clinical features including microcephaly, growth failure, intellectual disability, learning difficulties, and dysmorphic features. The 2 families presented here provide additional insight into the phenotypic spectrum and clinical significance of duplications in this region.

Progressive extensive osteoma cutis associated with dysmorphic features: a new syndrome? Case report and review of the literature

2002 ◽  
Vol 146 (6) ◽  
pp. 1075-1080 ◽  
Author(s):  
M.D.P. Davis ◽  
M.R. Pittelkow ◽  
N.M. Lindor ◽  
C.E. Lundstrom ◽  
L.A. Fitzpatrick
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Dysmorphic Features ◽  
Osteoma Cutis

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion

2013 ◽  
Vol 56 (9) ◽  
pp. 521-525 ◽  
Author(s):  
Scott E. Hickey ◽  
Sawona Biswas ◽  
Devon Lamb Thrush ◽  
Robert E. Pyatt ◽  
Julie M. Gastier-Foster ◽  
...  
Keyword(s):  
Short Stature ◽  
Developmental Delay ◽  
Dysmorphic Features
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