Related Experiment Video

Updated: Aug 10, 2026

Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
09:43

Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice

Published on: June 8, 2022

Chondrodysplasia punctata in siblings and maternal lupus erythematosus

K Kozlowski1, D Basel, P Beighton

  • 1Department of Medical Imaging, New Children's Hospital, Sydney, Australia.

Clinical Genetics
|November 4, 2004
PubMed

Insights

Maternal lupus erythematosus (MLE) is a potential cause of chondrodysplasia punctata (CDP). This association, observed in two brothers, suggests MLE should be considered in CDP diagnoses.

Area of Science:

  • Medical Genetics
  • Teratology

Background:

  • Chondrodysplasia punctata (CDP) is a rare skeletal disorder characterized by abnormal calcification.
  • Disseminated lupus erythematosus (DLE) is a chronic autoimmune disease with diverse clinical manifestations.

Observation:

  • Two brothers born in Cape Town presented with clinical and radiographic evidence of chondrodysplasia punctata.
  • The mother had a history of disseminated lupus erythematosus and epilepsy, treated with chloroquine during both pregnancies.

Findings:

  • The affected siblings suggest a potential genetic or environmental link between maternal lupus erythematosus and chondrodysplasia punctata.
  • Seven prior cases reported the co-occurrence of CDP and maternal lupus erythematosus.

Implications:

  • Maternal lupus erythematosus (MLE) should be recognized as a potential contributing factor in the etiology of chondrodysplasia punctata (CDP).
  • Further research is warranted to elucidate the mechanisms underlying the association between MLE and CDP.

More Related Videos

Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification10:21

Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification

Published on: September 20, 2024

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus05:39

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus

Published on: May 16, 2025

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
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,...
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.
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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...