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A forkhead-domain gene is mutated in a severe speech and language disorder
- Cecilia S. L. Lai, S. Fisher, J. Hurst, F. Vargha-Khadem, A. Monaco
- Biology, PsychologyNature
- 4 October 2001
It is suggested that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is involved in the developmental process that culminates in speech and language.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
- S. Köhler, S. Doelken, P. Robinson
- Biology, Computer ScienceNucleic Acids Res.
- 11 November 2013
The updated HPO database is described, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO, allowing integration of existing datasets and interoperability with multiple biomedical resources.
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
- A. Ryan, J. Goodship, P. Scambler
- MedicineJournal of Medical Genetics
- 1 October 1997
The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
- L. Vissers, C. V. Ravenswaaij, A. G. Kessel
- Biology, MedicineNature Genetics
- 8 August 2004
CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array…
Congenital leptin deficiency is associated with severe early-onset obesity in humans
- C. Montague, I. Farooqi, S. O’Rahilly
- Biology, MedicineNature
- 26 June 1997
The severe obesity found in two severely obese children who are members of the same highly consanguineous pedigree provides the first genetic evidence that leptin is an important regulator of energy balance in humans.
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
- A. Sharp, S. Hansen, E. Eichler
- BiologyNature Genetics
- 4 September 2006
Using oligonucleotide arrays, the breakpoints of this microdeletion were refined, defining a 478-kb critical region containing six genes that were deleted in all four individuals, and it was found that these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions.
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
- S. Slaney, M. Oldridge, A. Wilkie
- Medicine, BiologyAmerican Journal of Human Genetics
- 1 May 1996
The opposite trends for severity of syndactyly and cleft palate in relation to the two mutations may relate to the varying patterns of temporal and tissue-specific expression of different fibroblast growth factors, the ligands for FGFR2.
Heterozygous mutations of OTX2 cause severe ocular malformations.
- N. Ragge, Alison G. Brown, I. Hanson
- Medicine, BiologyAmerican Journal of Human Genetics
- 1 June 2005
Using a candidate-gene approach, heterozygous coding-region changes in the homeobox gene OTX2 are identified in eight families with ocular malformations and supported by data from these four families support a simple model in which OTX1 heterozygOUS loss-of-function mutations cause ocularmalformations.
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
- D. Koolen, A. Sharp, B. D. de Vries
- Medicine, BiologyJournal of Medical Genetics
- 15 July 2008
The data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder and shows that it is highly underdiagnosed.
An extended Family with a Dominantly Inherited Speech Disorder
- J. Hurst, M. Baraitser, E. Auger, F. Graham, S. Norell
- PsychologyDevelopmental Medicine & Child Neurology
- 1 April 1990
A three‐generation family is described in which 16 members have a severe developmental verbal dyspraxia. Inheritance is autosomal dominant, with full penetrance. Intelligence and hearing are normal.
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