scholarly journals Case Report: A Boy From a Consanguineous Family Diagnosed With Congenital Muscular Dystrophy Caused by Integrin Alpha 7 (ITGA7) Mutation

2021 ◽  
Vol 12 ◽  
Author(s):  
Wenqing Xia ◽  
Zhumei Ni ◽  
Zheng Zhang ◽  
Hongfei Sang ◽  
Huifang Liu ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Genetic Heterogeneity ◽  
Motor Development ◽  
Clinical Care ◽  
Congenital Muscular Dystrophy ◽  
Autosomal Recessive Inheritance ◽  
Consanguineous Family ◽  
Gross Motor Development ◽  
Whole Exome ◽  
Alpha 7

Introduction: Congenital muscular dystrophy (CMD) is a group of early-onset disorders with clinical and genetic heterogeneity. Patients always present with muscle weakness typically from birth to early infancy, delay or arrest of gross motor development, and joint and/or spinal rigidity. There are various genes related to the development of CMD. Among them, mutations in integrin alpha 7 (ITGA7) is a rare subtype. The identification of disease-causing genes facilitates the diagnosis and treatment of CMD.Methods: We screened ITGA7 mutations in four people by whole exome sequencing and targeted sequencing from a consanguineous family. We then carried out electromyography and neuroelectrophysiological examinations to clarify a clinical picture of the patient diagnosed with CMD.Results: We report a Chinese boy diagnosed with CMD who carries a homozygous variant (c.1088dupG, p.H364Sfs*15) of the ITGA7 gene. According to the genotype analysis of his family members, this is an autosomal recessive inheritance.Conclusions: Our case further shows that ITGA7 mutation is related to CMD. Genetic counseling and multidisciplinary management of CMD play an important role in helping patients and their family. Further elucidation of the significant clinical and genetic heterogeneity, therapeutic targets, and the clinical care for patients remains our challenge for the future.

scholarly journals New mutation in the TRIP4 gene associated with congenital muscular dystrophy Davignon–Chauveau type (clinical case)

2021 ◽  
Vol 11 (3) ◽  
pp. 51-63
Author(s):  
T. V. Kozhanova ◽  
S. S. Zhilina ◽  
T. I. Mescheryakova ◽  
M. Yu. Shorina ◽  
I. F. Demenshin ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Clinical Case ◽  
Congenital Muscular Dystrophy ◽  
Neuromuscular Diseases ◽  
Homozygous Mutation ◽  
Rare Form ◽  
Progressive Muscle Weakness ◽  
Whole Exome ◽  
Heterozygous Variant ◽  
First Time

Congenital muscular dystrophies are heterogeneous groups of neuromuscular diseases leading to hypotonia, progressive muscle weakness and dystrophic or structural signs in muscle biopsy. At the present time, 34 genes associated with congenital muscular dystrophy have been described. The clinical case of a rare form of congenital muscular dystrophia associated with a homozygous mutation in the TRIP4 gene in a patient with respiratory failure requiring respiratory support, neurological symptoms, muscular hypotonia, and multiple congenital malformations of skeletal system is presented for the first time in Russia. The undescribed pathogenic homozygous variant of the nucleotide sequence in the TRIP4 gene (chr15:64686179, c.136C>T, p.Arg46Ter, 2 exon, NM_016213.4) was detected by whole exome sequencing. The mutation in the TRIP4 gene was validated by Sanger sequencing in a child and its origin was investigated. The mother and father of the girl are carriers of the heterozygous variant in the TRIP4 gene. Identification of the genetic cause of a rare form of neuromuscular disease is important for determining the tactics of patient management and medical and genetic counseling of the family, as well as clarifying the pathogenesis of a rare pathology. 

Prediction of postnatal developmental disabilities using the antenatal fetal neurodevelopmental test: KANET assessment

2018 ◽  
Vol 47 (1) ◽  
pp. 77-81 ◽  
Author(s):  
Toshiyuki Hata ◽  
Kenji Kanenishi ◽  
Nobuhiro Mori ◽  
Mohamed Ahmed Mostafa AboEllail ◽  
Uiko Hanaoka ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Developmental Disabilities ◽  
Muscular Dystrophy ◽  
Motor Development ◽  
Developmental Disorders ◽  
Congenital Muscular Dystrophy ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Diagnostic Modality ◽  
Significant Difference

Abstract Objective To assess the usefulness of the antenatal fetal neurodevelopmental test for the prediction of postnatal developmental disabilities. Methods Fetal behavior was assessed with Kurjak’s antenatal neurodevelopmental test (KANET) using four-dimensional ultrasound between 28 and 38 weeks of gestation. A score range of 0–5 was characterized as abnormal, from 6 to 9 was considered borderline, and 10–16 was normal. After birth, follow-up was conducted for at least 2 years in all fetuses. Results There were 337 normal (95.47%) and 16 borderline (4.53%) cases among the 353 cases studied, whereas there was no abnormal case. Five cases with postnatal developmental disabilities (one case of Werdig-Hoffmann disease diagnosed just after delivery, one case of autism spectrum disorder diagnosed at 24 months, one case of Ullrich congenital muscular dystrophy diagnosed at 9 months and two cases of developmental disorders diagnosed at age 3 and 18 months) were noted among the 337 normal cases (1.48%), whereas three cases with developmental disabilities (one case of motor development delay diagnosed at 6 months, one case of Duchenne muscular dystrophy diagnosed at 18 months and one case of autism spectrum disorder diagnosed at age 30 months) were found among the 16 borderline cases (18.75%). There was a significant difference in the prevalence of postnatal developmental disabilities between the normal and borderline KANET groups (P<0.001). Conclusion Our results suggest that the KANET assessment may be a useful diagnostic modality for the prediction of postnatal developmental disabilities.

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

1999 ◽  
Vol 9 (6-7) ◽  
pp. 376-382 ◽  
Author(s):  
Behzad Moghadaszadeh ◽  
Haluk Topaloglu ◽  
Luciano Merlini ◽  
Francesco Muntoni ◽  
Brigitte Estournet ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Genetic Heterogeneity ◽  
Congenital Muscular Dystrophy ◽  
Rigid Spine Syndrome

scholarly journals Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

2009 ◽  
Vol 67 (2a) ◽  
pp. 343-362 ◽  
Author(s):  
Umbertina Conti Reed
Keyword(s):  
Motor Development ◽  
Autosomal Recessive ◽  
Congenital Muscular Dystrophy ◽  
Autosomal Recessive Inheritance ◽  
Collagen Vi ◽  
Progressive Muscle Weakness ◽  
Alpha Dystroglycan ◽  
The Brain ◽  
Abnormal Glycosylation

The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. In the last number of this journal, we presented the main clinical and diagnostic data concerning the different subtypes of CMD. In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem), CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscle-eye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D), and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex.

scholarly journals Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement

2015 ◽  
Vol 2 (1) ◽  
pp. 87-92 ◽  
Author(s):  
Ozge Ceyhan-Birsoy ◽  
Beril Talim ◽  
Lindsay C. Swanson ◽  
Mert Karakaya ◽  
Michelle A. Graff ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Congenital Muscular Dystrophy ◽  
Whole Exome ◽  
Eye Involvement

scholarly journals Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Uluç Yis ◽  
Figen Baydan ◽  
Mert Karakaya ◽  
Semra Hız Kurul ◽  
Sebahattin Cirak
Keyword(s):  
Muscular Dystrophy ◽  
Elevated Serum ◽  
Congenital Muscular Dystrophy ◽  
Illumina Platform ◽  
Skin Changes ◽  
Psychomotor Delay ◽  
Whole Exome ◽  
Intense Pruritus ◽  
Work Up ◽  
Nummular Eczema

Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family admitted for psychomotor delay. Physical examination revealed proximal muscle weakness, contractures in the knee of elder sibling, diffuse mild generalized muscle atrophy, and dry skin with ichthyosis together with multiple nummular eczema in both siblings. Serum CK values were elevated up to 500 U/L. For genetic work-up, we performed whole exome sequencing (WES) after Nimblegen enrichment on the Illumina platform. The WES revealed a novel homozygous missense mutation in the Choline Kinase-Beta (CHKB) gene c.1031G>A (p.R344Q) in exon 9. Ichthyosis-like skin changes with intense pruritus and nummular eczema may lead to clinical diagnosis in cases with megaconial congenital muscular dystrophy.

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