Wiedemann-steiner syndrome with a de novo mutation in KMT2A

Jinxiu, Liu; Shuimei, Liang; Ming, Xue; Jonathan, Liu Cs; Liu, Xiangju; Duan, Wenyuan

doi:10.1097/md.0000000000019813

Cited by 14 publications

(13 citation statements)

References 15 publications

(17 reference statements)

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“…Features of WDSTS patients include intellectual disability, craniofacial defects, and skeletal and heart defects. De novo frameshift mutation (p.Glu390Lysfs∗10) in the KMT2A gene was described in a 10-year-old boy with congenital heart disease (ventricular septal defects) [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

Kowalczyk¹,

Bartnik‐Glaska²,

Smyk³

et al. 2021

Genes

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Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects. We present the results of the application of array CGH in 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated CHD and 228 CHD coexisting with other malformations). We identified pathogenic aberrations and likely pathogenic genetic loci for CHD in 165 fetuses and 9 copy number variants (CNVs) of unknown clinical significance. Prenatal array-CGH is a useful method allowing the identification of all unbalanced aberrations (number and structure) with a much higher resolution than the currently applied traditional assessment techniques karyotype. Due to this ability, we identified the etiology of heart defects in 37% of cases.

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Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

Kowalczyk¹,

Bartnik‐Glaska²,

Smyk³

et al. 2021

Genes

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“…Although elbow hirsutism is specific, it is not present in all cases. When we compared the photographs of patients taken at different age classes, we found that the facial features and hirsutism gradually became more pronounced with increasing age, and such phenotypic indicators included down-slanting palpebral fissures, ptosis, synophrys, thick eyebrows, and thick hair [ 7 , 10 , 11 , 12 , 13 , 14 , 15 , 16 ].…”

Section: Review Of the Literaturementioning

confidence: 99%

Wiedemann–Steiner Syndrome: Case Report and Review of Literature

Zhang

et al. 2022

Children

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Wiedemann–Steiner syndrome (WDSTS) is an autosomal dominant disorder with a broad and variable phenotypic spectrum characterized by intellectual disability, prenatal and postnatal growth retardation, hypertrichosis, characteristic facial features, behavioral problems, and congenital anomalies involving different systems. Here, we report a five-year-old boy who was diagnosed with WDSTS based on the results of Trio-based whole-exome sequencing and an assessment of his clinical features. He had intellectual disability, short stature, hirsutism, and atypical facial features, including a low hairline, down-slanting palpebral fissures, hypertelorism, long eyelashes, broad and arching eyebrows, synophrys, a bulbous nose, a broad nasal tip, and dental/oral anomalies. However, not all individuals with WDSTS exhibit the classic phenotype, so the spectrum of the disorder can vary widely from relatively atypical facial features to multiple systemic symptoms. Here, we summarize the clinical and molecular spectrum, diagnosis and differential diagnosis, long-term management, and care planning of WDSTS to improve the awareness of both pediatricians and clinical geneticists and to promote the diagnosis and treatment of the disease.

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“…However, the features of WSS are shared by a range of disorders, including Coffin-Siris syndrome, Nicolaides-Baraitser syndrome, Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, Kabuki syndrome, Bohring-Opitz syndrome, Suleiman-El-Hattab syndrome, and Blepharophimosis-ptosis-epicanthus inversus syndrome ( Bramswig et al, 2015 ; Miyake et al, 2016 ; Baer et al, 2018 ; Li et al, 2018 ; Negri et al, 2019 ; Jinxiu et al, 2020 ; Demir et al, 2021 ; Di Fede et al, 2021 ; Sheppard et al, 2021 ; Castiglioni et al, 2022 ; Riedhammer et al, 2022 ). The overlapping clinical signs may complicate the diagnosis of a patient.…”

Section: Introductionmentioning

confidence: 99%

Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome

et al. 2023

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Objective: Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant disorder caused by deleterious heterozygous variants of the KMT2A gene. This study aims to describe the phenotypic and genotypic features of Chinese WSS patients, and assess therapeutic effects of recombinant human growth hormone (rhGH).Methods: Eleven Chinese children with WSS were enrolled in our cohort. Their clinical, imaging, biochemical and molecular findings were analyzed retrospectively. Moreover, the phenotypic features of 41 previously reported Chinese WSS patients were reviewed and included in our analysis.Results: In our cohort, the 11 WSS patients presented with classic clinical manifestations, but with different frequencies. The most common clinical features were short stature (90.9%) and developmental delay (90.9%), followed by intellectual disability (72.7%). The most frequent imaging features were patent ductus arteriosus (57.1%) and patent foramen ovale (42.9%) in cardiovascular system, and abnormal corpus callosum (50.0%) in the brain. In the set comprising 52 Chinese WSS patients, the most common clinical and imaging manifestations were developmental delay (84.6%), intellectual disability (84.6%), short stature (80.8%) and delayed bone age (68.0%), respectively. Eleven different variants, including three known and eight novel variants, of the KMT2A gene were identified in our 11 WSS patients without a hotspot variant. Two patients were treated with rhGH and yielded satisfactory height gains, but one developed acceleration of bone age.Conclusion: Our study adds 11 new patients with WSS, reveals different clinical characteristics in Chinese WSS patients, and extends the mutational spectrum of the KMT2A gene. Our study also shares the therapeutic effects of rhGH in two WSS patients without GH deficiency.

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Wiedemann-steiner syndrome with a de novo mutation in KMT2A

Abstract: Supplemental Digital Content is available in the text

Cited by 14 publications

References 15 publications

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

Wiedemann–Steiner Syndrome: Case Report and Review of Literature

Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome

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