𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Analysis of genotype–phenotype correlations in human holoprosencephaly

✍ Scribed by Benjamin D. Solomon; Sandra Mercier; Jorge I. Vélez; Daniel E. Pineda-Alvarez; Adrian Wyllie; Nan Zhou; Christèle Dubourg; Veronique David; Sylvie Odent; Erich Roessler; Maximilian Muenke

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
239 KB
Volume
154C
Category
Article
ISSN
1552-4868

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

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.

📜 SIMILAR VOLUMES

Genotype–phenotype correlations in Rubin
Genotype–phenotype correlations in Rubinstein–Taybi syndrome
✍ E.K. Schorry; M. Keddache; N. Lanphear; J.H. Rubinstein; S. Srodulski; D. Fletch 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 2 views

## Abstract Rubinstein–Taybi syndrome (RTS) is a rare multiple congenital anomaly/intellectual impairment syndrome. Loss of function in __CREBBP__ or __EP300__ genes has been found in about 50% of patients with RTS. Genotype–phenotype correlations were investigated in 93 patients meeting diagnostic

Genotype, molecular phenotype, and cogni
Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome
✍ Kaufmann, Walter E.; Abrams, Michael T.; Chen, Wilma; Reiss, Allan L. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 2 views

The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive profile. Following the characterization of FMRP, the FMR1 gene product, preliminary correlations betw