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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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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Published on: March 23, 2022

[LEOPARD syndrome].

Lars Kjaersgård Hansen1, Kirsten Risby, Anette Bygum

  • 1Paediatrisk Afdeling, Odense Universitetshospital, DK-5000 Odense C. lars.kjaersgaard.hansen@ouh.regionsyddanmark.dk

Ugeskrift for Laeger
|January 29, 2009
PubMed
Summary
This summary is machine-generated.

LEOPARD syndrome (LS) is a rare genetic disorder. A PTPN11 gene mutation was identified in a boy and his mother, confirming the LS diagnosis and highlighting the need for genetic counseling.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Medicine

Background:

  • LEOPARD syndrome (LS) is a rare autosomal dominant disorder.
  • LS is characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and deafness.
  • Mutations in the PTPN11 gene are a common cause of LS.

Observation:

  • A 12-year-old boy presented with a typical phenotype of LEOPARD syndrome.
  • Genetic testing revealed a PTPN11 gene mutation (Thr468Met, c.1403C > T) in the affected boy and his mother.
  • Other maternal family members are suspected to have LS.

Findings:

  • The PTPN11 gene mutation c.1403C > T (Thr468Met) is confirmed as the cause of LS in this family.
  • This finding reinforces the role of PTPN11 in the pathogenesis of LEOPARD syndrome.
  • The mutation was identified in a familial cluster, suggesting hereditary transmission.

Implications:

  • Early diagnosis and genetic counseling are crucial for families with LS.
  • Understanding the molecular basis of LS aids in diagnosis and potential therapeutic strategies.
  • Further research into the PTPN11 gene and its variants can elucidate the spectrum of LS and related disorders like Noonan syndrome.