Related Experiment Video

Updated: Jun 16, 2026

Dextran Labeling and Uptake in Live and Functional Murine Cochlear Hair Cells
05:55

Dextran Labeling and Uptake in Live and Functional Murine Cochlear Hair Cells

Published on: February 8, 2020

Autosomal dominant microtia

S Chafai Elalaoui1, I Cherkaoui Jaouad, L Rifai

  • 1Department of Medical Genetics, National Institute of Health, 27, Avenue Ibn Batouta, B.P. 769 Rabat, Morocco. sihamgen@yahoo.fr

European Journal of Medical Genetics
|February 16, 2010
PubMed

Insights

This study investigates microtia, a congenital ear malformation. A family case suggests autosomal dominant inheritance with variable expression and incomplete penetrance for microtia and hearing loss.

Area of Science:

  • Medical Genetics
  • Otolaryngology
  • Developmental Biology

Background:

  • Microtia is a congenital ear malformation affecting 1 in 8,000-10,000 births, characterized by an abnormally small or misshapen pinna.
  • It frequently co-occurs with external auditory canal atresia, leading to conductive deafness.
  • Genetic counseling for microtia is challenging due to reported familial cases with both dominant and recessive inheritance patterns.

Observation:

  • This paper details a family exhibiting congenital microtia and conductive deafness across two generations.
  • The observed pattern of inheritance in this family provides new insights into the genetic basis of microtia.

Findings:

  • The family's presentation suggests autosomal dominant inheritance for microtia and associated conductive deafness.
  • Variable expression and incomplete penetrance were noted, indicating complex genetic mechanisms influencing microtia manifestation.

Implications:

  • Understanding the inheritance patterns of microtia is crucial for accurate genetic counseling and diagnosis.
  • Further research into the genetic factors of microtia can aid in developing targeted interventions and management strategies.

More Related Videos

Endaural Endoscopic Atticoantrotomy (Retrograde Mastoidectomy) using a Constant Suction Bone-drilling Technique07:06

Endaural Endoscopic Atticoantrotomy (Retrograde Mastoidectomy) using a Constant Suction Bone-drilling Technique

Published on: May 23, 2021

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis07:40

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Published on: January 4, 2017

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
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.
Microtubules in Signaling01:22

Microtubules in Signaling

The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
Genetic Lingo01:11

Genetic Lingo

Overview
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.
Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...