Arthrogryposis Multiplex Congenita: Twenty-Three Cases in an Arab Kindred

Lebenthal, Emanuel; Shochet, Solly Barnard; Adam, A.; Seelenfreund, M; Fried, A; Najenson, T; Sandbank, U.; Matoth, Y

doi:10.1542/peds.46.6.891

Cited by 44 publications

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“…Selon Drachman et Banker (1961), la presence de pieds bots serait une indication de l'origine neurogene de raffection et d'apres Adams et al (1962), ce serait seulement la forme myopathique qui serait familiale. Cela parait confirme par 1'observation de Lebenthal et al (1970) qui ont trouve une heredite recessive dans une forme myopathique d'arthrogrypose. C'est le seul element conducteur que nous ayons trouve dans la litterature permettant de prevoir dans une certaine mesure si un cas d'arthrogrypose peut recommencer dans une famille.…”

Section: Affections a Predisposition Hereditaire Possibleunclassified

Genetic Counseling in Neurology

Dodinval

1974

Acta genet. med. gemellol.

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This review deals with CNS troubles and anomalies (excluding mental defects and oligophrenia, as well as primary muscular degenerations), that account for approximately 25 percent of all cases of genetic counseling in our material.From a genetic-counseling perspective, CNS affections may be easily classed as follows: (1) congenital malformations; (2) monofactorial Mendelian affections; (3) diseases with a possibly hereditary disposition (e.g., arthrogryposis); (4) infant cerebral palsies; and (5) epilepsies.In our own material, CNS congenital malformations account for approximately 60 percent of all cases of neurologic genetic counseling, whereas Mendelian affections account for only 20 percent and epilepsies for 15 percent. They mainly include cases of hydrocephaly, anencephaly, spina bifida, and microcephaly, for which the recurrence risk is mostly empirical. Emphasis is laid on the present possibilities of prenatal detection of some of these malformations.

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Section: Affections a Predisposition Hereditaire Possibleunclassified

Genetic Counseling in Neurology

Dodinval

1974

Acta genet. med. gemellol.

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“…Two homozygous missense variants have been reported to date 4,5 . All patients presented relatively mild non‐syndromic arthrogryposis and achieved ability to walk with the help of orthopedic prosthesis and surgical interventions 4,6 . The causative role of ERGIC1 remains however uncertain and the pathogenic mechanism has not been definitely proven.…”

Section: Introductionmentioning

confidence: 99%

Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis

et al. 2021

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Arthrogryposis describes the presence of multiple joint‐contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed. Among these, ERGIC1 is a recently reported candidate encoding a putative transmembrane protein of the ER‐Golgi interface. Two homozygous missense variants have been reported in patients with relatively mild non‐syndromic arthrogryposis. In a consanguineous family with two affected siblings presenting congenital arthrogryposis and some facial dysmorphism we performed prenatal array‐CGH, postnatal targeted exome and genome sequencing. Genome sequencing identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1. mRNA quantification showed the complete absence of ERGIC1 expression in the two affected siblings and a decrease in heterozygous parents. Our observations validate the pathogenic role of ERGIC1 in congenital arthrogryposis and demonstrate that complete loss of function causes a relatively mild phenotype. These findings will contribute to improve genetic counseling of ERGIC1 mutations.

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Arthrogryposis Multiplex Congenita and the Turner Phenotype

Krieger¹

1972

Arch Pediatr Adolesc Med

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Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita(AMC) with central and peripheral nervous system involvement. We present genetic and detailed phenotypic information on 23 newly identified families and simplex cases that include 19 affected females from 18 families and 14 affected males from 9 families. Of note, the 15 females with deleterious de novo ZC4H2 variants presented with phenotypes ranging from mild to severe, and their clinical features overlapped with those seen in affected males. By contrast, of the 9 carrier females with inherited ZC4H2 missense variants that were deleterious in affected male relatives, 4 were symptomatic. We also compared clinical phenotypes with previously published cases of both sexes and provide an overview on 48 males and 57 females from 42 families. The spectrum of ZC4H2 defects comprises novel and recurrent mostly inherited missense variants in affected males, and de novo splicing, frameshift, nonsense and partial ZC4H2 deletions in affected females.Pathogenicity of two newly identified missense variants was further supported by studies in zebrafish. We propose ZC4H2 as a good candidate for early genetic testing of males and females with a clinical suspicion of fetal hypo-/akinesia and/or (neurogenic) AMC.

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Arthrogryposis Multiplex Congenita: Twenty-Three Cases in an Arab Kindred

Cited by 44 publications

References 0 publications

Genetic Counseling in Neurology

Genetic Counseling in Neurology

Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis

Arthrogryposis Multiplex Congenita and the Turner Phenotype

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