Related Experiment Video

Updated: Sep 9, 2025

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

8.7K

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly

Alfonso Manuel D'Alessio1,2, Annalaura Torella1,3, Manuela Morleo1,4

  • 1Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.

Clinical Genetics
|September 2, 2025
PubMed

Insights

This study details clinical and molecular findings in patients with biallelic variants of the PDCD6IP gene. Understanding these genetic variations is crucial for diagnosing and managing related conditions.

Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Medicine

Background:

  • The PDCD6IP gene plays a role in cellular processes.
  • Biallelic variants in PDCD6IP can lead to various clinical manifestations.
  • Understanding the genotype-phenotype correlation is essential for genetic counseling.

Observation:

  • This research focuses on a cohort of patients presenting with biallelic variants in the PDCD6IP gene.
  • Clinical data and molecular information were systematically collected.
  • The study aimed to identify patterns and specific features associated with these variants.

Findings:

  • Detailed clinical phenotypes were observed in patients with PDCD6IP biallelic variants.
  • Specific molecular signatures were identified, correlating with clinical presentations.
  • The findings provide insights into the functional impact of PDCD6IP variants.

Implications:

  • This work expands the understanding of PDCD6IP-related disorders.
  • The results can aid in the diagnosis and potential therapeutic strategies for affected individuals.
  • Further research into PDCD6IP function is warranted.

Keywords:
PDCD6IPgenetic diseaseintellectual disabilitymicrocephalymultiple fracturesneurodevelopmental disorderrare disease

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K
Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs10:47

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

10.1K

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...
35.2K
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,...
41.1K
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
25.4K
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
103.0K
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
716