Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: A new type of distal arthrogryposis?

Sonoda, T; Kouno, Keiichiro

doi:10.1002/(sici)1096-8628(20000410)91:4<280::aid-ajmg8>3.3.co;2-2

Cited by 9 publications

(16 citation statements)

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“…Counseling of families with MC‐EDS regarding long‐term outcome and management, and reproductive plans is presently based on the description of 34 affected persons from 22 unrelated families [Steinmann et al, ; Dündar et al, ; Sonoda and Kouno, ; Dündar et al, ; Janecke et al, ; Kosho et al, ; Dündar et al, ; Kosho et al, ; Malfait et al, ; Shimizu et al, ; Mendoza‐Londono et al, ; Voermans et al, ; Winters et al, ]. MC‐EDS had been established as a disease entity by the identification of CHST14 mutations at least in the index patient of each family reported to date (Fig.…”

Section: Discussionmentioning

confidence: 99%

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

Janecke

Boehm

et al. 2015

American J of Med Genetics Pt A

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The musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) has been recently recognized as a clinical entity. MC-EDS represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders spectrum. Thirty-one and three patients have been reported with MC-EDS so far with biallelic mutations identified in CHST14 and DSE, respectively, encoding two enzymes necessary for dermatan sulfate (DS) biosynthesis. We report seven additional patients with MC-EDS from four unrelated families, including the follow-up of a sib-pair originally reported with the kyphoscoliotic type of EDS in 1975. Brachycephaly, a characteristic facial appearance, an asthenic build, hyperextensible and bruisable skin, tapering fingers, instability of large joints, and recurrent formation of large subcutaneous hematomas are always present. Three of seven patients hadmildly elevated serum creatine kinase. The oldest patient was blind due to retinal detachment at 45 years and died at 59 years from intracranial bleeding; her affected brother died at 28 years from fulminant endocarditis. All patients in this series harbored homozygous, predicted loss-of-function CHST14 mutations. Indeed, DS was not detectable in fibroblasts from two unrelated patients with homozygous mutations. Patient fibroblasts produced higher amounts of chondroitin sulfate, showed intracellular retention of collagen types I and III, and lacked decorin and thrombospondin fibrils compared with control. A great proportion of collagen fibrils were not integrated into fibers, and fiber bundles were dispersed into the ground substance in one patient, all of which is likely to contribute to the clinical phenotype. This report should increase awareness for MC-EDS.

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Section: Discussionmentioning

confidence: 99%

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

Janecke

Boehm

et al. 2015

American J of Med Genetics Pt A

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“…For example, mutations in carbohydrate sulfotransferase 3 ( CHST3 ) are known to cause spondyloepiphyseal dysplasia with congenital joint dislocations [Thiele et al, ], with features that include dysplasia and subluxation of the elbow and short stature. Other genes encoding enzymes involved in GAG synthesis, such as CHST14 [Sonoda and Kouno, ], CHSY1 [Tian et al, ], EXT1 [Francannet et al, ] have also been variably associated with short stature. It is interesting to note that these disorders, which share common molecular mechanisms of defects in proteoglycan synthesis, have overlapping phenotypic features.…”

Section: Discussionmentioning

confidence: 99%

Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

Guo

Stoler

Lui

et al. 2013

American J of Med Genetics Pt A

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Proteoglycans are a component of the extracellular matrix and are critical for cellular and tissue function. Mutations in proteoglycan components and enzymes involved in proteoglycan synthesis have been implicated in several growth disorders, with common features including short stature and skeletal dysplasia. For example, mutations in B4GALT7, a gene whose protein product catalyzes proteoglycan synthesis, have been associated with the rare progeroid variant of Ehlers-Danlos syndrome. Here, we conducted exome sequencing in a patient with a previously undiagnosed growth disorder and identified compound heterozygous mutations in B4GALT7. This patient is just the fourth individual with genetically confirmed progeroid variant of Ehlers-Danlos syndrome. The mutations include a previously characterized c.808C>T p.Arg270Cys substitution, and a novel c.122T>C p.Leu41Pro substitution. We demonstrate that the novel mutation caused decreased levels of the enzyme, supporting the pathogenicity of the mutation. Our report identifies a novel mutation in B4GALT7 causing the progeroid variant of Ehlers-Danlos syndrome and contributes an extensive phenotypic characterization of a patient with the syndrome. We also reviewed the previous literature in addition to the present patient, and conclude that the key features associated with B4GALT7 deficiency are short stature, developmental anomalies of the forearm bones and elbow, and bowing of the extremities, in addition to the classic features of Ehlers-Danlos syndrome. This report helps define the phenotype of the progeroid variant of Ehlers-Danlos syndrome and furthers our understanding of the effect of proteoglycan defects in growth disorders.

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“…They subsequently reported a similar patient from another consanguineous Turkish family with three other similarly affected siblings who died of an unknown etiology in early infancy [Dündar et al, ]. The authors suggested that two brothers from a Japanese consanguineous family, manifesting multiple distal arthrogryposis, characteristic facial features, cleft palate, short stature, hydronephrosis, cryptorchidism, and normal intelligence, also had the syndrome [Sonoda and Kouno, ]. Janecke et al [] described two affected brothers from another consanguineous Austrian family, and concluded that the syndrome would represent a new type of arthrogryposis with central nervous system involvement, congenital heart defects, urogenital defects, myopathy, connective tissue involvement (GJH), and normal or subnormal intellectual development [Janecke et al, ].…”

Section: Musculocontractural Eds (Mceds)mentioning

confidence: 99%

“…The ages of patients with CHST14 mutations at the latest publication ranged from 0 day to 59 years. [Dündar et al, ; Sonoda and Kouno, ; Dündar et al, ; Janecke et al, ; Yasui et al, ; Kosho et al, ; Kosho et al, ; Malfait et al, ; Shimizu et al, ; Mendoza‐Londono et al, ; Winters et al, ; Voermans et al, ; Syx et al, ; Janecke et al, ; Mochida et al, ].…”

Section: Musculocontractural Eds (Mceds)mentioning

confidence: 99%

The Ehlers–Danlos syndromes, rare types

Brady¹,

Demirdas²,

Fournel‐Gigleux³

et al. 2017

American J of Med Genetics Pt C

188

288

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The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen‐modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS‐variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes. Advances in molecular testing have made it possible to now identify the causative mutation for many patients presenting these phenotypes. The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research. © 2017 Wiley Periodicals, Inc.

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Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: A new type of distal arthrogryposis?

Cited by 9 publications

References 0 publications

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

The Ehlers–Danlos syndromes, rare types

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