The <i>ASXL1</i> mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome

Urreizti, Roser; Gürsoy, Semra; Castilla‐Vallmanya, Laura; Cunill, Guillem; Rabionet, Raquel; Erçal, Derya; Grinberg, Daniel; Balcells, Susana

doi:10.1002/ccr3.1603

Cited by 6 publications

(2 citation statements)

References 14 publications

(9 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Missense variations in the ASXL3 gene are closely associated with autism spectrum disorders, and dysfunction variants can lead to severe psychomotor retardation [16,17]. BRPS and Bohring-Opitz syndrome (BOS) are both genetic diseases with ASXL gene abnormalities [18], which are difficult to distinguish in clinical practice and can manifest as severe psychomotor retardation, difficulty in feeding, hypotonia and microcephaly [19,20]. With the increase in cases of BRPS syndrome reported in recent years, the clinical manifestations of the two diseases have also been found to be different.…”

Section: Discussionmentioning

confidence: 99%

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report

et al. 2020

View full text Add to dashboard Cite

Background Bainbridge–Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the Additional sex combs-like 3 (ASXL3) gene. Only four cases have been reported in China and are limited to the analysis of its clinical abnormalities, medical imaging features and gene variation. The aim of this study was to investigate the clinical phenotype, imaging manifestations and genetic characteristics of BPRS syndrome caused by ASXL3 gene mutation. Clinical data, medical imaging data and gene test results of BRPS in infant patients were retrospectively analyzed, and related literature was summarized. Case presentation At the age of 8 months, brain MRI showed that the subarachnoid space of the forehead was widened, part of the sulci was deepened, and the corpus callosum was thin. The development quotient (DQ) was determined using the 0~6-year-old pediatric examination table of neuropsychological development at 6 months and 8 months. The DQ of both tests was less than 69. Whole-exome sequencing revealed a heterozygous frameshift mutation c.3493_3494deTG in exon 12 of the ASXL3 gene, resulting in the amino acid change p. (Cys1165Ter). No variation was present at this site in her parents. Sanger sequencing of family members validated this analysis, suggesting a de novo mutation. The de novo ASXL3 mutations generated stop codons and were predicted, in silico, to generate a truncated ASXL3. Conclusions The main clinical features of the patient included psychomotor development retardation, difficulty in feeding, hypotonia, and special facial features. MRI features showed that brain development lagged behind that of normal children. Genetic testing is helpful in the early diagnosis of BRPS.

show abstract

Section: Discussionmentioning

confidence: 99%

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Cases of children with ASXL1 variants have been reported primarily in Western countries, with only 7 cases reported in Asian countries [3 cases in China ( 7 , 8 ), 1 in India ( 9 ), 1 in Japan ( 10 ), 1 in Turkey ( 11 ) and 1 in Korea ( 12 )]. In this study, a Chinese child with BOS was found to carry an ASXL1 gene variant.…”

Section: Introductionmentioning

confidence: 99%

A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review

et al. 2021

View full text Add to dashboard Cite

Bohring-Opitz syndrome (BOS) is a rare genetic disease first reported by Bohring et al. in 1999. With the recent development of exome sequencing (ES), de novo truncating mutations in the additional sex-combs-like 1 (ASXL1) gene have been causally implicated in BOS. Herein, we describe a 7-month-old girl with intrauterine growth restriction, severe pulmonary infection, seizures, and craniofacial abnormalities (microcephaly, micro/retrognathia, hypertelorism, depressed nasal bridge, low-set ears and hypertrichosis) at birth. At a later stage, the patient developed global developmental delay. We performed ES and identified a de novo heterozygous mutation in ASXL1, namely, c.1210C>T/p.R404*. However, this case did not have trigonocephaly, facial hemangioma, prominent eyes, myopia, BOS posture, or brain abnormalities (enlarged subarachnoid spaces, agenesis of the corpus callosum, moderately enlarged cerebral ventricles, or prominent frontal subarachnoid spaces), which are common characteristics in most patients with BOS-harboring ASXL1 mutations. These new data expand the phenotype of BOS driven by ASXL1 and may assist in more accurately delineating the phenotypes caused by variants of this gene.

show abstract

Interpreting variants in genes affected by clonal hematopoiesis in population data

2023

View full text Add to dashboard Cite

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome

Cited by 6 publications

References 14 publications

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report

A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review

Interpreting variants in genes affected by clonal hematopoiesis in population data

Contact Info

Product

Resources

About