A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type

Albuz, Burcu; Çetin, Gökhan Ozan; Özhan, Bayram; Sarikepe, Bilge; Anlaş, Özlem; Öztürk, Menekşe; Zeybek, Selcan; Sabir, Nuran; Bağcı, Gülseren; Gündüz, Cavidan Nur Semerci

doi:10.1097/mcd.0000000000000295

Cited by 9 publications

(4 citation statements)

References 10 publications

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“…None of the patients had hearing loss. Seven patients reported in this study had supernumerary carpal ossification centers which were observed in only six previously reported patients and most of them were above 10 years of age (Albuz et al, 2020; Otaify et al, 2023; Tuysuz et al, 2009; van Roij et al, 2008). The other two affected individuals were of ages 3 and 6 years, suggesting the possibility of observing this feature later in life.…”

Section: Discussionmentioning

confidence: 52%

Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations

Singh,

Jacob,

Patil

et al. 2023

American J of Med Genetics Pt A

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CHST3‐related chondrodysplasia with congenital joint dislocations (CDCJD, #MIM 143095), is a rare genetic skeletal disorder caused by biallelic loss of function variants in CHST3. CHST3 is critical for the sulfation of chondroitin sulfate. This study delineates the clinical presentation of nine individuals featuring the key symptoms of CDCJD; congenital joint (knee and elbow) dislocations, short trunk short stature progressive vertebral anomalies, and metacarpal shortening. Additional manifestations include irregular distal femoral epiphysis, supernumerary carpal ossification centers, bifid humerus, club foot, and cardiac abnormalities. Sanger sequencing was carried out to investigate molecular etiology in eight patients and exome sequencing in one. Genetic testing revealed five homozygous variants in CHST3 (four were novel and one was previously reported). All these variants are located on sulfotransferase domain of CHST3 protein and were classified as pathogenic/ likely pathogenic. We thus report on nine individuals with CHST3‐related chondrodysplasia with congenital joint dislocations from India and suggest monitoring the health of cardiac valves in this condition.

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Section: Discussionmentioning

confidence: 52%

Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations

Singh,

Jacob,

Patil

et al. 2023

American J of Med Genetics Pt A

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“…In addition, a remarkable phenotypic heterogeneity was observed among patients and even sibs carrying the same CHST3 variant. Generally, protein truncating variants have not been reported to exhibit a more severe phenotype than missense variants (Albuza et al, 2020; Hermanns et al, 2008; Unger et al, 2010). This is in accordance with our study where the phenotype of patients harboring frameshift and nonsense variants was similar to those with missense variants.…”

Section: Discussionmentioning

confidence: 99%

CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

Otaify

Elhossini

Abdel‐Ghafar

et al. 2023

American J of Med Genetics Pt A

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Biallelic variants in CHST3 gene result in congenital dislocation of large joints, club feet, short stature, rhizomelia, kypho-scoliosis, platyspondyly, epiphyseal dysplasia, flared metaphysis, in addition to minor cardiac lesions and hearing loss. Herein, we describe 14 new patients from 11 unrelated Egyptian families with CHST3-related skeletal dysplasia. All patients had spondyloepiphyseal changes that were progressive with age in addition to bifid distal ends of humeri which can be considered a diagnostic key in patients with CHST3 variants. They also shared peculiar facies with broad forehead, broad nasal tip, long philtrum and short neck. Rare unusual associated findings included microdontia, teeth spacing, delayed eruption, prominent angulation of the lumbar-sacral junction and atrial septal defect. Mutational analysis revealed 10 different homozygous CHST3 (NM_004273.5) variants including 7 missense, two frameshift and one nonsense variant. Of them, the c.384_391dup (p.Pro131Argfs*88) was recurrent in two families. Eight of these variants were not described before. Our study presents the largest series of patients with CHST3-related skeletal dysplasia from the same ethnic group. Furthermore, it reinforces that lethal cardiac involvement is a critical clinical finding of the disorder. Therefore, we believe that our study expands the phenotypic and mutational spectrum, and also highlights the importance of performing echocardiography in patients harboring CHST3 variants.

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“…This gene encodes Chondroitin 6-O sulfotransferase. This enzyme regulates proteoglycan sulfation in the extracellular cartilage matrix (1,2). It has been reported that it causes severe chondrodysplasia and progressive spinal damage as a result of loss of function (3).…”

Section: Introductionmentioning

confidence: 99%

A Novel In-Frame Type Deletion in CHST3 Gene in A Patient with Spondyloepiphyseal Dysplasia

Çetin

Sipahioğlu

Gumus

2022

Harran Üniversitesi Tıp Fakültesi Dergisi

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Spondyloepiphyseal Dysplasia (SED) accompanying with congenital joint dislocations; is a genetic disease with different subtypes that progress with multiple dislocations. It occurs due to a mutation in the CHST3 gene. This syndrome requires long and cascading surgeries, which presents with short-bodied dwarfism, joint dislocations and range of motion (ROM) limitations (knee, hip, elbow). In this case report, we describe an in frame type deletion reported for the first time. We also included the step-by-step surgery program applied to the patient and its results.

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A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type

Cited by 9 publications

References 10 publications

Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations

Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations

CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

A Novel In-Frame Type Deletion in CHST3 Gene in A Patient with Spondyloepiphyseal Dysplasia

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