An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature

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.

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A Report on a Family with TMTC3-Related Syndrome and Review

Case Reports in Medicine ◽

10.1155/2020/7163038 ◽

2020 ◽

Vol 2020 ◽

pp. 1-6

Author(s):

Sayeeda Hana ◽

Deepak karthik ◽

Jingxuan Shan ◽

Stephany El Hayek ◽

Lotfi Chouchane ◽

...

Keyword(s):

Intellectual Disability ◽

Exome Sequencing ◽

Neuronal Migration ◽

Psychomotor Retardation ◽

Muscular Hypotonia ◽

Review Of The Literature ◽

Recessive Mutations ◽

Whole Exome ◽

Development Delay ◽

Cobblestone Lissencephaly

Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either cobblestone lissencephaly or periventricular hypertopia. Here, we report a new case of a TMTC3-related syndrome in a Lebanese family with two affected siblings showing severe psychomotor retardation, intellectual disability, microcephaly, absence of speech, muscular hypotonia, and seizures. Whole exome sequencing revealed a homozygous pathogenic variant c.211 C > T (p.R71C) in the TMTC3 gene in both siblings. A review of the literature on TMTC3-related syndrome and its causal mutations is provided.

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An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

Case Reports in Genetics ◽

10.1155/2016/6046351 ◽

2016 ◽

Vol 2016 ◽

pp. 1-5 ◽

Cited By ~ 2

Author(s):

Trupti Kale ◽

Melissa Philip

Keyword(s):

Intellectual Disability ◽

Interstitial Deletion ◽

Language Delay ◽

Facial Features ◽

Rare Entity ◽

Review Of The Literature ◽

Phenotypic Profile ◽

Concise Review ◽

Phenotypic Variations ◽

Primary Focus

Interstitial deletions of the distal 7q region are considered a rare entity. In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to each of the reports. However, there are also a number of similarities among these cases as well. We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population.

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Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.33899 ◽

2011 ◽

Vol 155 (4) ◽

pp. 911-914 ◽

Cited By ~ 5

Author(s):

Nicola Specchio ◽

Antonio Carotenuto ◽

Marina Trivisano ◽

Simona Cappelletti ◽

Cristina Digilio ◽

...

Keyword(s):

Intellectual Disability ◽

Clinical Report ◽

Review Of The Literature

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A guide to psychopharmacological treatment of patients with intellectual disability in psychiatry

The International Journal of Psychiatry in Medicine ◽

10.1177/0091217417720896 ◽

2017 ◽

Vol 52 (2) ◽

pp. 176-189 ◽

Cited By ~ 3

Author(s):

Rosa M Molina-Ruiz ◽

Julia Martín-Carballeda ◽

Inmaculada Asensio-Moreno ◽

Francisco Montañés-Rada

Keyword(s):

Intellectual Disability ◽

Psychiatric Disorders ◽

Psychotropic Drugs ◽

Scientific Evidence ◽

Future Research ◽

Review Of The Literature ◽

Treatment Interventions ◽

Comorbid Psychiatric Disorders ◽

Psychopharmacological Treatment ◽

Increased Risk

Background Subjects with intellectual disability are at increased risk of having comorbid psychiatric disorders and worse response to psychotherapeutic and psychopharmacological treatment interventions. On the other hand, available data on best treatment approach in this population are scarce and lack scientific evidence due to methodological limitations. The present study aims to perform a systematic review of the literature to facilitate the use of psychotropic drugs in clinical practice and better establish future research targets in this field. Objectives To review the available psychopharmacological strategies for patients with intellectual disabilities, psychiatric disorders, and behavioural disturbances. Serve as a quick guide for clinicians working in the field of intellectual disability. Methods We conducted a selective evidence-based review of the literature using Pubmed and EMBASE databases and selected most recent and relevant papers for this review. Results There are several available psychotropic drugs for the treatment of patients with intellectual disability and comorbid psychiatric disorders, although scientific evidence is limited. Treatment should be individualized according to risk–benefit balance. Discussion Further studies are needed and new available drugs should be considered to gain knowledge in effectiveness of different therapeutic approaches available in this population.

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