Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations

Seo, Jieun; Choi, Inho; Lee, Je-Sang; Yoo, Yongjin; Kim, Nayoung K.D.; Choi, Murim; Ko, Jung Min; Shin, Yong Beom

doi:10.1038/jhg.2015.2

Cited by 16 publications

(23 citation statements)

References 11 publications

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“…The three criteria to be met by that papers in order to be eligible were: (a) patients with nonlethal MPS or ES, (b) detected CHRNG mutation/s, and (c) availability of sufficient clinical data of every patient. Ten papers with 57 cases met the established criteria (Al Kaissi et al, ; Bayram et al, ; Bissinger & Koch, ; Hoffmann et al, ; Kariminejad et al, ; Morgan et al, ; Robinson et al, ; Seo et al, ; Vogt et al, ). All cases collected are summarized in Table , Supporting Information Table S1, and Supporting Information Figure S1.…”

Section: Methodsmentioning

confidence: 99%

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

Carrera‐García

Benito

Dieterich³

et al. 2019

American J of Med Genetics Pt A

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Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS).Herein we present a long-term follow-up of seven patients with CHRNG-related nonlethal MPS and we compare them with the 57 previously published patients. The objective is defining not only the clinical, histopathological, and molecular genetic characteristics, but also the type and degree of muscle involvement on whole-body magnetic resonance imaging (WBMRI). CHRNG mutations lead to a distinctive phenotype characterized by multiple congenital contractures, pterygium, and facial dysmorphism, with a stable clinical course over the years. Postnatal abnormalities at the neuromuscular junction were observed in the muscle biopsy of these patients.Laura Carrera-García and Daniel Natera-de Benito contributed equally to this study.

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Section: Methodsmentioning

confidence: 99%

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

Carrera‐García

Benito

Dieterich³

et al. 2019

American J of Med Genetics Pt A

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“…The fetal AchR establishes a connection between a muscle and akson and takes part in the neural and muscular organogenesis. The letal type of disease is characterized be mutations in CHRNA1 and CHRND genes encoding alfa1-and beta-subunit AchR [7,8].…”

Section: Discussionmentioning

confidence: 99%

Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report

Khmyzov¹,

Sharmazanova²,

Lysenko³

et al. 2017

ORTHOPAEDICS, TRAUMATOLOGY and PROSTHETICS

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Представлен клинический пример уникального сочетания у пациента комбинации редких генетических заболеваний -несовершенного остеогенеза (НО) и синдрома Эскобара. НО (osteogenesis imperfectа, врожденная ломкость костей, периостальная дистрофия, внутриутробный рахит, остеопсатироз, болезнь Лобштейна-Вролика, «хрустальная» болезнь) [Q 78.0] -гетерогенное наследственное заболевание, с частотой в популяции от 1-7,2:10 000 до 1:20 000. Характеризуется нарушением синтеза коллагена I типа. Клинически проявляется множественными переломами и развитием прогрессирующих деформаций длинных костей конечностей, некоторые варианты заболевания сопровождаются наличием голубых склер и прогрессирующей тугоухостью. Синдром Эскобара (синдром множественных птеригиумов, Multiple pterygium syndromes, OMIM 265 000) -орфанное наследственное заболевание, частота встречаемости неизвестна. Клинические проявления -шейный, антекубитальный, подколенный птеригиумы, множественные контрактуры суставов, избыточные кожные складки в подмышечной впадине и между пальцами, врожденный или рано проявившийся сколиоз или кифосколиоз, наличие полупозвонков, частичное слияние тел позвонков, крипторхизм и гипогонадизм у мальчиков, фетальная акинезия, низкий рост волос на затылке, деформация стоп по типу «стопа-качалка», задержка внутриутробного развития, небольшой рост, черепно-лицевые дизморфизмы (микрогнатия), антимонголоидный разрез глаз (смещение медиальных краев глазных щелей вверх) с эпикантом или без него, птоз, арахнодактилия, респираторный дистресс-синдром (в связи с гипоплазией легочной ткани), расщелина твердого и мягкого неба, низко посаженные глаза. Интеллектуальное развитие, как правило, не страдает. Лечение является комплексным: коррекция метаболических нарушений, хирургические вмешательства для устранения деформаций конечностей, расщелины неба, птеригиумов. Ключевые слова: синдром Эскобара, несовершенный остеогенез, переломы и деформации костей, наследственные заболевания. © Khmyzov S. О., Sharmazanova Ye. P., Lysenko N. S., Pashenko A. V., 2017

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“…Capture of genomic DNA, next‐generation sequencing for WES, and data processing were performed as previously reported [Seo et al, ]. Among the called variants, common variants listed in public databases (dbSNP build 137; 1000 Genomes Project release 10.31.2012; NHLBI Exome Sequencing Project) were excluded.…”

Section: Methodsmentioning

confidence: 99%

Atypical presentation of infantile‐onset farber disease with novel ASAH1 mutations

Kim

Choi

Lee

et al. 2016

American J of Med Genetics Pt A

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Farber disease is a very rare autosomal recessive disease caused by mutation of ASAH1 that results in the accumulation of ceramide in various tissues. Clinical symptoms of classic Farber disease comprise painful joint deformity, hoarseness of voice, and subcutaneous nodules. Here, we describe a patient with Farber disease with atypical presentation of early onset hypotonia, sacral mass, congenital heart disease, and dysmorphic face since birth. Severe cognitive disability, failure to gain motor skills, failure to thrive, and joint contractures developed. Using whole-exome sequencing, we identified the compound heterozygote missense mutations of ASAH1 (p.R333C and p.G235R). Because of the diagnostic delay, she underwent sacral mass excision, which revealed enlarged lysosomes and zebra bodies. We report an atypical presentation of Farber disease with her pathology and associated genetic defect. This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge. We also discuss the clinical utility of whole-exome sequencing for diagnosis of ultra-rare diseases. © 2016 Wiley Periodicals, Inc.

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Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations

Cited by 16 publications

References 11 publications

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report

Atypical presentation of infantile‐onset farber disease with novel ASAH1 mutations

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