Síndrome de Arboleda-Tham causado por nova variante genética

Síndrome de Arboleda-Tham causado por nova variante genética

We report the case of a 10-year-old boy followed since birth due to a polymalformative syndrome, including congenital cardiac disease, microcephaly, failure to thrive, trunk hypotonia and hypertonia of the extremities. With time, chief complaints were developmental delay and absence of expressive la...

Full description

Bibliographic Details
Main Authors:	Ivana Cardoso, Margarida Fernandes, Rita Quental, Marta Vila Real, Fátima Santos
Format:	Article
Language:	English
Published:	Sociedade Brasileira de Pediatria 2023-12-01
Series:	Residência Pediátrica
Subjects:	whole exome sequencing intellectual disability genes
Online Access:	https://cdn.publisher.gn1.link/residenciapediatrica.com.br/pdf/v13n4e761.pdf

Similar Items

Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay
by: Yung-Feng Lin, et al.
Published: (2020-12-01)

CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS
by: Ahmad Omair Virk, et al.
Published: (2019-04-01)

Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome
by: Deniz Torun, et al.
Published: (2022-10-01)

Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
by: Jingjing Xiang, et al.
Published: (2021-11-01)

Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability
by: Boxuan Li, et al.
Published: (2023-10-01)

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies
by: Eglė Preikšaitienė, et al.
Published: (2016-07-01)

Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability
by: Areerat Hnoonual, et al.
Published: (2019-02-01)

Pathological Variants of Aminoacyl-tRNA-synthetase-Interacting Multifunctional Protein 1 Gene in an Iranian Consanguineous Family With Autosomal Recessive Intellectual Disability
by: Sara Cheraghi, et al.
Published: (2020-02-01)

ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
by: Dalida El Khatib, et al.
Published: (2024-04-01)

Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3
by: Wang Li, et al.
Published: (2024-09-01)

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay
by: Chengyan Li, et al.
Published: (2024-11-01)

Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature
by: Zhengxia Liu, et al.
Published: (2024-05-01)

Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay
by: Fei Yang, et al.
Published: (2024-07-01)

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability
by: Yoon Hee Jo, et al.
Published: (2024-09-01)

A novel missense mutation in the TGF-β-binding protein-like domain 3 of FBN1 causes Weill–Marchesani syndrome with intellectual disability
by: Mahdieh Hassani, et al.
Published: (2023-01-01)

Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia
by: Guilan Xie, et al.
Published: (2022-09-01)

Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability
by: Chunyan Jin, et al.
Published: (2021-11-01)

A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family
by: Shaomin Wu, et al.
Published: (2022-01-01)

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability
by: Aniko Sabo, et al.
Published: (2020-10-01)

Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability
by: Baoqiong Liao, et al.
Published: (2025-01-01)

The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants
by: Huimin Li, et al.
Published: (2024-02-01)

Four heterozygous de novo variants in ASXL3 identified with Bainbridge–Ropers syndrome and further dissecting published genotype–phenotype spectrum
by: Shengjie Ling, et al.
Published: (2024-11-01)

Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing
by: Jinbo Xu, et al.
Published: (2024-11-01)

Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)
by: Ying Dai, et al.
Published: (2020-08-01)

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family
by: Rongrong Wang, et al.
Published: (2019-10-01)

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
by: Fengchang Qiao, et al.
Published: (2019-09-01)

Editorial: Developmental delay and intellectual disability
by: Santasree Banerjee, et al.
Published: (2022-09-01)

A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report
by: Fengchang Qiao, et al.
Published: (2019-11-01)

Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome
by: Mei Sun, et al.
Published: (2024-01-01)

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
by: Carneiro TNR, et al.
Published: (2018-08-01)

A novel variant in NSUN2 causes intellectual disability in a Chinese family
by: Qi Yang, et al.
Published: (2024-04-01)

A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X‐linked intellectual disability type Nascimento
by: Dingyuan Ma, et al.
Published: (2019-11-01)

Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population
by: Rai‐Hseng Hsu, et al.
Published: (2023-06-01)

Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures
by: Liedewei Van De Vondel, et al.
Published: (2022-09-01)

AFF2 Is Associated With X-Linked Partial (Focal) Epilepsy With Antecedent Febrile Seizures
by: Dongfang Zou, et al.
Published: (2022-03-01)

A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia
by: Haixia Zhang, et al.
Published: (2019-03-01)

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report
by: Lorena Díaz-Ordoñez, et al.
Published: (2019-05-01)

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
by: Muhammad Ilyas, et al.
Published: (2020-03-01)

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
by: Floriana Valentino, et al.
Published: (2021-07-01)

Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant
by: Mohammad‐Reza Ghasemi, et al.
Published: (2025-01-01)