Related Experiment Video

Updated: May 16, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3

Bart C W Kuipers1, Anneke T Vulto-van Silfhout, Carlo Marcelis

  • 1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Clinical Dysmorphology
|November 28, 2012
PubMed

Insights

Two patients with a 1.4 Mb deletion in chromosome 6p25.1p24.3 experienced mild intellectual disability and distinct facial features. Researchers identified NRN1 and RREB1 as potential candidate genes linked to these clinical observations.

Area of Science:

  • Genetics
  • Human Molecular Genetics
  • Clinical Dysmorphology

Background:

  • Genomic deletions can lead to complex phenotypes by affecting multiple genes.
  • Understanding genotype-phenotype correlations is crucial for diagnosing genetic disorders.

Observation:

  • Two patients presented with a 1.4 Mb overlapping deletion in the 6p25.1p24.3 region.
  • Clinical features included mild intellectual disability, infantile feeding issues, and specific dysmorphic traits (prominent forehead, almond eyes, short philtrum, low-set square ears).

Findings:

  • The deletion encompasses six genes: RREB1, NRN1, CAGE1, LY86, SSR1, and F13A1.
  • NRN1 is implicated as a candidate gene for intellectual disability.
  • RREB1 is suggested as a candidate gene for the observed dysmorphic features.

Implications:

  • This study refines the critical region for 6p25.1p24.3 deletions and associated phenotypes.
  • Identifies NRN1 and RREB1 as key candidate genes, aiding in genetic diagnostics and counseling.
  • Contributes to the understanding of gene function in neurodevelopment and craniofacial morphogenesis.

More Related Videos

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

FISH for Pre-implantation Genetic Diagnosis07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Karyotyping01:17

Karyotyping

Overview
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Intellectual Disability01:29

Intellectual Disability

Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...