scholarly journals A rare presentation of KBG syndrome

2021 ◽  
Vol 8 (7) ◽  
pp. 1284
Author(s):  
Dhanya Soodhana Mohan ◽  
Vani Hebbal Nagarajappa
Keyword(s):  
Cognitive Impairment ◽  
Clinical Features ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Genetic Condition ◽  
Rare Presentation ◽  
Characteristic Appearance ◽  
The Third ◽  
Wide Range ◽  
Kbg Syndrome

KBG syndrome is a rare, genetic disorder characterizedby cognitive impairment, short stature, skeletal (mainly costovertebral) anomalies and a distinct craniofacial appearance. It is usually autosomal dominant in nature with a wide range of expressivity in its clinical features. We describe what appears to be the third case reported from India.The aim of this article is to review familiar clinical features and to highlight the endocrine management of KBG syndrome. We are hereby reporting a case of 17 year 10 months old adolescent who had neurocognitive impairment and a characteristic appearance, which led to the diagnosis of this genetic condition.

scholarly journals Clinical Deep Phenotyping of ABCA7 Mutation Carriers

2022 ◽  
Vol 8 (2) ◽  
pp. e655
Author(s):  
Alana S. Campbell ◽  
Charlotte C.G. Ho ◽  
Merve Atık ◽  
Mariet Allen ◽  
Sarah Lincoln ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
General Population ◽  
Clinical Review ◽  
Clinical Features ◽  
Motor Symptoms ◽  
Clinical Phenotypes ◽  
First Degree Relatives ◽  
Mutation Carriers ◽  
Wide Range ◽  
Deep Phenotyping

Background and ObjectivesPutative loss-of-function (pLOF) ABCA7 variants that increase Alzheimer disease (AD) risk were identified; however, deep phenotypic characterization of these variants in mutation carriers is limited. We aimed to obtain deep clinical phenotypes of ABCA7 pLOF mutation carriers from a large retrospectively reviewed series.MethodsGenotypes were determined for 5,353 individuals evaluated at Mayo Clinic for 6 reported ABCA7 pLOF variants (p.E709fs, p.Trp1214X, p.L1403fs, c.4416+2T>G, p.E1679X, and c.5570+5G>C). Medical records of 100 mutation carriers were reviewed for demographics, clinical phenotypes, and diagnoses. Eleven mutation carriers had autopsy-based neuropathologic diagnoses.ResultsWe confirmed that ABCA7 pLOF mutations confer AD risk in our series of 2,495 participants with AD and 2,858 cognitively unaffected participants. Clinical review of 100 mutation carriers demonstrated phenotypic variability of clinical presentations with both memory and nonmemory cognitive impairment and a subset presenting with motor symptoms. There was a wide range of age at onset of cognitive symptoms (ages 56–92 years, mean = 75.6). Ten of the 11 autopsied mutation carriers had AD neuropathology. ABCA7 pLOF mutation carriers had higher rates of depression (41.6%) and first-degree relatives with cognitive impairment (38.1%) compared with the general population.DiscussionOur study provides a deep clinical review of phenotypic characteristics of mutation carriers for 6 ABCA7 pLOF mutations. Although memory impairment was the most common initial symptom, nonmemory cognitive and/or motor symptoms were present in a substantial number of mutation carriers, highlighting the heterogeneity of clinical features associated with these mutations. Likewise, although AD neuropathology is the most common, it is not the only autopsy-based diagnosis. Presence of earlier ages at onset, higher rates of depression, and first-degree relatives with cognitive impairment among mutation carriers suggest that these genetic variants may have more aggressive clinical features than AD in the general population. This deep phenotyping study of ABCA7 pLOF mutation carriers provides essential genotype-phenotype correlations for future precision medicine approaches in the clinical setting.

scholarly journals Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Qun Li ◽  
Guoying Chang ◽  
Lei Yin ◽  
Juan Li ◽  
Xiaodong Huang ◽  
...  
Keyword(s):  
Clinical Features ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Genetic Variations ◽  
Chinese Children ◽  
Chinese Patients ◽  
Cornelia De Lange Syndrome ◽  
Gene Variants ◽  
Wide Range ◽  
Cornelia De Lange

AbstractCornelia de Lange Syndrome (CdLS) is a rare genetic disorder, which causes a range of physical, cognitive, and medical challenges. To retrospectively analyze the clinical characteristics and genetic variations of Chinese patients, and to provide experience for further diagnosis and treatment of CdLS in Chinese children, we identified 15 unrelated Chinese children who presented with unusual facial features, short stature, developmental delay, limb abnormalities, and a wide range of health conditions. In this study, targeted-next generation sequencing was used to screen for causal variants and the clinically relevant variants were subsequently verified using Sanger sequencing. DNA sequencing identified 15 genetic variations, including 11 NIPBL gene variants, two SMC1A gene variants, one RAD21 gene variant, and one HDAC8 variant. The phenotype of these patients was summarized and differences between this cohort and another four groups were compared. The clinical manifestations of the patients in this cohort were mostly consistent with other ethnicities, but several clinical features in our cohort had different frequencies compared with other groups. We identified 15 deleterious variants of which 11 were novel. Variants in the NIPBL gene were the most common cause in our cohort. Our study not only expands upon the spectrum of genetic variations in CdLS, but also broadens our understanding of the clinical features of CdLS.

scholarly journals Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy

2018 ◽  
Vol 4 (6) ◽  
pp. e292 ◽  
Author(s):  
Naomi Mezaki ◽  
Takeshi Miura ◽  
Kotaro Ogaki ◽  
Makoto Eriguchi ◽  
Yuri Mizuno ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Clinical Features ◽  
Autosomal Dominant ◽  
White Matter Lesions ◽  
Magnetic Resonance Images ◽  
Unknown Etiology ◽  
Temporal Region ◽  
Adult Onset ◽  
Mri Features ◽  
Peripheral Leukocytes

ObjectiveTo characterize the genetic and clinical features of patients with autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) carrying duplication and deletion upstream of lamin B1 (LMNB1).MethodsNinety-three patients with adult-onset leukoencephalopathy of unknown etiology were genetically analyzed for copy numbers of LMNB1 and its upstream genes. We examined LMNB1 expression by reverse transcription-qPCR using total RNA extracted from peripheral leukocytes. Clinical and MRI features of the patients with ADLD were retrospectively analyzed.ResultsWe identified 4 patients from 3 families with LMNB1 duplication. The duplicated genomic regions were different from those previously reported. The mRNA expression level of LMNB1 in patients with duplication was significantly increased. The clinical features of our patients with LMNB1 duplication were similar to those reported previously, except for the high frequency of cognitive impairment in our patients. We found 2 patients from 1 family carrying a 249-kb genomic deletion upstream of LMNB1. Patients with the deletion exhibited relatively earlier onset, more prominent cognitive impairment, and fewer autonomic symptoms than patients with duplication. The presence of cerebellar symptoms and lesions may be characteristic in our patients with the deletion compared with the previously reported family with the deletion. Magnetic resonance images of patients with the deletion exhibited a widespread distribution of white matter lesions including the anterior temporal region.ConclusionsWe identified 4 Japanese families with ADLD carrying duplication or deletion upstream of LMNB1. There are differences in clinical and MRI features between the patients with the duplication and those with the deletion upstream of LMNB1.

scholarly journals Case Report: Two Newly Diagnosed Patients With KBG Syndrome—Two Different Molecular Changes

2021 ◽  
Vol 9 ◽  
Author(s):  
Katarzyna Wojciechowska ◽  
Joanna Nurzyńska-Flak ◽  
Borys Styka ◽  
Magdalena Kacprzak ◽  
Monika Lejman
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Facial Features ◽  
The Novel ◽  
Gene Microarray ◽  
Newly Diagnosed ◽  
Kbg Syndrome ◽  
Generation Sequencing

Mutations or deletions of ANKRD11 gene are responsible for the symptoms of KBG syndrome. The KBG syndrome is a rare genetic disorder which is inherited in an autosomal dominant manner. Affected patients usually have characteristic facial features, macrodontia of the upper central incisors, hand abnormalities, developmental delay and short stature. In the present article we would like to report a clinical and molecular case study of two patients affected by KBG syndrome. The diagnosis of the first patient was confirmed by the identification of the novel pathogenic variant in ANKRD11 gene by next-generation sequencing. The second patient was diagnosed after the detection of a 16q24.2q24.3 deletion encompassing the ANKRD11 gene microarray.

Familial Alzheimer Dementia: a prevalent disorder with specific clinical features

1984 ◽  
Vol 14 (1) ◽  
pp. 63-80 ◽  
Author(s):  
John C. S. Breitner ◽  
Marshal F. Folstein
Keyword(s):  
Nursing Home ◽  
Clinical Features ◽  
Autosomal Dominant ◽  
Language Disorder ◽  
Senile Dementia ◽  
Familial Aggregation ◽  
Genetic Disorder ◽  
Multiple Informants ◽  
Alzheimer Dementia ◽  
Familial Form

SynopsisThe early literature on Alzheimer Dementia (AD) describes the clinical features aphasia, apraxia and agraphia as characteristic. We investigated the hypothesis that these features would specifically identify the familial form of AD (FAD). Since pedigree studies had suggested that FAD is an autosomal dominant genetic disorder, we hypothesized that the first-degree relatives of language-disordered or apractic AD probands would show at least 50% lifetime risks of dementia. Using standardized methods, we screened 3500 nursing home beds for stringently defined AD cases and controls, tested for agraphia, and obtained probands' clinical and family histories from multiple informants. Language disorder and apraxia were found in 78% of AD cases. They strongly predicted familial aggregation of dementia, with a 90-year lifetime incidence among relatives exceeding 50%, or 7 times the control values. The results suggest that language disorder and apraxia specifically identify a distinct clinical entity, Familial Alzheimer Dementia, that is among the commonest forms of senile dementia.

scholarly journals Clinically Relevant Imaging in Tuberous Sclerosis

2011 ◽  
Vol 1 ◽  
pp. 39 ◽  
Author(s):  
Rupa Radhakrishnan ◽  
Sadhna Verma
Keyword(s):  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Genetic Condition ◽  
Multiple Organs ◽  
Screening And Surveillance ◽  
Regulate Cell Growth ◽  
Organ Specific ◽  
Clinical Changes ◽  
The Brain

Tuberous sclerosis (TS), also known as Bourneville disease or Bourneville–Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. Both terms describe clinical changes due to mutations involving either of the two genes named TSC1 and TSC2, which regulate cell growth. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC.

scholarly journals Piebaldism: A rare presentation in Nepalese context

2014 ◽  
Vol 3 (2) ◽  
pp. 88-91
Author(s):  
Sabina Bhattarai ◽  
Sandesh Maskey ◽  
Aishana Joshi
Keyword(s):  
Clinical Features ◽  
Cosmetic Surgery ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Review Of The Literature ◽  
Autosomal Dominant Disorder ◽  
Rare Presentation ◽  
Concise Review ◽  
First Case ◽  
Good Cosmetic

Piebaldism is a rare autosomal dominant disorder characterised by a congenital white forelock and multiple symmetrical hypopigmented or depigmented macules. We present a case of an 18 year old male with a typical clinical presentation, followed by a concise review of the literature discussing the genetics, clinical features, diagnosis, and management of the condition. This is the first case of Piebaldism to be reported from Nepal with a good cosmetic surgery outcome.DOI: http://dx.doi.org/10.3126/jkmc.v3i2.11233Journal of Kathmandu Medical CollegeVol. 3, No. 2, Issue 8, Apr.-Jun., 2014Page: 88-91

The Colonial Documentary Film in South and South-East Asia

2017 ◽  
Keyword(s):  
East Asia ◽  
Subject Matter ◽  
Documentary Film ◽  
East Asian ◽  
South East Asia ◽  
Post Colonial ◽  
Historical Perspectives ◽  
The Third ◽  
Wide Range ◽  
Global Understanding

Writing from a wide range of historical perspectives, contributors to the anthology shed new light on historical, theoretical and empirical issues pertaining to the documentary film, in order to better comprehend the significant transformations of the form in colonial, late colonial and immediate post-colonial and postcolonial times in South and South-East Asia. In doing so, this anthology addresses an important gap in the global understanding of documentary discourses, practices, uses and styles. Based upon in-depth essays written by international authorities in the field and cutting-edge doctoral projects, this anthology is the first to encompass different periods, national contexts, subject matter and style in order to address important and also relatively little-known issues in colonial documentary film in the South and South-East Asian regions. This anthology is divided into three main thematic sections, each of which crosses national or geographical boundaries. The first section addresses issues of colonialism, late colonialism and independence. The second section looks at the use of the documentary film by missionaries and Christian evangelists, whilst the third explores the relation between documentary film, nationalism and representation.

Role of Cardiac MRI in Detecting Familial Hypertrophic Cardiomyopathy: Review

2016 ◽  
Vol 1 (1) ◽  
pp. 4
Author(s):  
Marymol Koshy ◽  
Bushra Johari ◽  
Mohd Farhan Hamdan ◽  
Mohammad Hanafiah
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Magnetic Resonance ◽  
Genetic Disorder ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Non Invasive ◽  
Wide Range ◽  
Proper Diagnosis ◽  
Magnetic Resonance Imaging Mri ◽  
Potential Use

Hypertrophic cardiomyopathy (HCM) is a global disease affecting people of various ethnic origins and both genders. HCM is a genetic disorder with a wide range of symptoms, including the catastrophic presentation of sudden cardiac death. Proper diagnosis and treatment of this disorder can relieve symptoms and prolong life. Non-invasive imaging is essential in diagnosing HCM. We present a review to deliberate the potential use of cardiac magnetic resonance (CMR) imaging in HCM assessment and also identify the risk factors entailed with risk stratification of HCM based on Magnetic Resonance Imaging (MRI).

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