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Related Concept Videos

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,...
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Lethal Alleles

Agouti: A Lethal Allele
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Sex Linked Disorders

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Related Experiment Video

Updated: May 16, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Published on: March 23, 2022

Smith-Lemli-Opitz-syndrome.

Rachana Gedam1, Ira Shah, Uma Ali

  • 1Department of Pediatrics, B. J. Wadia Hospital for Children, Parel, Mumbai, India.

Indian Journal of Human Genetics
|November 20, 2012
PubMed
Summary

Smith-Lemli-Opitz syndrome is a genetic disorder caused by a defect in cholesterol biosynthesis. This case study details a child with characteristic facial dysmorphism, organ anomalies, and failure to thrive.

Keywords:
Atrial septal defectcholesterolhydronephrosispolydactylysmith lemli opitz syndrome

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder.
  • It involves a severe defect in cholesterol biosynthesis.
  • This leads to low plasma cholesterol and elevated 7-dehydrocholesterol.

Observation:

  • A case of SLOS in a child is presented.
  • The child exhibited typical clinical features of SLOS.
  • These included facial dysmorphism, cardiac and renal anomalies, and failure to thrive.

Findings:

  • The underlying cause is a deficiency of 7-dehydrocholesterol reductase.
  • This enzyme is crucial for cholesterol biosynthesis.
  • The deficiency results in the accumulation of a cholesterol precursor.

Implications:

  • Understanding this pathway is vital for diagnosing and managing SLOS.
  • Further research can explore therapeutic interventions targeting cholesterol metabolism.
  • Early diagnosis and intervention can improve patient outcomes.