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Analysis of genotype–phenotype correlations in human holoprosencephaly
Author(s) -
Solomon Benjamin D.,
Mercier Sandra,
Vélez Jorge I.,
PinedaAlvarez Daniel E.,
Wyllie Adrian,
Zhou Nan,
Dubourg Christèle,
David Veronique,
Odent Sylvie,
Roessler Erich,
Muenke Maximilian
Publication year - 2010
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30240
Subject(s) - holoprosencephaly , phenotype , genotype phenotype distinction , genetics , genotype , biology , disease , gene , genetic counseling , mutation , bioinformatics , medicine , pathology , pregnancy , fetus
Since the discovery of the first gene causing holoprosencephaly (HPE), over 500 patients with mutations in genes associated with non‐chromosomal, non‐syndromic HPE have been described, with detailed descriptions available in over 300. Comprehensive clinical analysis of these individuals allows examination for the presence of genotype–phenotype correlations. These correlations allow a degree of differentiation between patients with mutations in different HPE‐associated genes and for the application of functional studies to determine intragenic correlations. These early correlations are an important advance in the understanding of the clinical aspects of this disease, and in general argue for continued analysis of the genetic and clinical findings of large cohorts of patients with rare diseases in order to better inform both basic biological insight and care and counseling for affected patients and families. Published 2010 Wiley‐Liss, Inc.