- Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester M13 9WL, UK
Am J Hum Genet 89:675-81. 2011
..This is a further example of how perturbation of a protein involved in chromatin modification might give rise to a multisystem developmental disorder...
- Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder
Department of Genetic Medicine, St Mary s Hospital, University of Manchester, Manchester, UK
Clin Dysmorphol 19:128-32. 2010
..2009) who also reported a history of depression in an adult woman with a similar deletion...
- Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
Simon C Ramsden
National Genetics Reference Laboratory Manchester, Saint Mary s Hospital, Hathersage Road, Manchester M13OJH, UK
BMC Med Genet 11:70. 2010
..Given the diversity of techniques available, there is a need for consensus testing and reporting guidelines...
- Brittle cornea syndrome: recognition, molecular diagnosis and management
Emma M M Burkitt Wright
Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
Orphanet J Rare Dis 8:68. 2013
..Effective management depends upon appropriate identification of affected individuals, which may be challenging given the phenotypic overlap of BCS with other connective tissue disorders...
- Trisomy 18 mosaicism: report of two cases
Academic Unit of Medical Genetics, St Mary s Hospital, Manchester, UK
World J Pediatr 9:179-81. 2013
..Mosaic trisomy 18 has a wide phenotypic spectrum ranging from near normal to early death. We report two cases that add to our knowledge of the disease...
- Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies
Clinical Fellow in Clinical Genetics, Central Manchester University Hospitals Foundation Trust, Manchester Academic Health Sciences Centre, Genetic Medicine, St Mary s Hospital, Oxford Rd, Manchester, UK
Arch Dis Child 97:812-7. 2012
..We studied the outcome of genetic assessment of 80 children referred to a regional genetics centre between 2004 and 2010 to identify the value of the genetic assessment in cases of suspected FASD...
- Identification of genomic loci contributing to agenesis of the corpus callosum
Mary C O'Driscoll
University of Manchester, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, Hathersage Road, Manchester, M13 9WL, United Kingdom
Am J Med Genet A 152:2145-59. 2010
- Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome
Manchester Biomedical Research Centre, MAHSC, St Mary s Hospital, UK
Am J Med Genet A 155:1685-9. 2011
- 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate
Genetic Medicine, University of Manchester, Manchester Academic Heath Science Centre, Central Manchester University Hospital, NHS Foundation Trust, Oxford Road, Manchester, M13 9WL, UK
Eur J Med Genet 52:454-7. 2009
..1 which includes SATB2, a gene previously shown to be associated with cleft palate. The phenotypic features of our patient are milder than those reported so far...
- A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion
Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, University of Manchester, UK
Am J Med Genet A 155:1453-7. 2011
..1 duplication may be a phenotypic modifier in this family and likely results in epilepsy and learning difficulties. We state the possible genes in this region that may be important in neurological development and function...
- Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
Emma M Jenkinson
Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre, Manchester M13 9WL, UK
Am J Hum Genet 92:605-13. 2013
..Together with the previous identification of mutations in HARS2, encoding mitochondrial histidyl-tRNA synthetase, mutations in CLPP expose dysfunction of mitochondrial protein homeostasis as a cause of Perrault syndrome...
- A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26
Deirdre D Cilliers
Academic Department of Medical Genetics and Regional Genetic Services, St Mary s Hospital, University of Manchester, Manchester, UK
Eur J Med Genet 50:216-23. 2007
..However, the more severe mental retardation, muscle wasting and tremor described in this other family would suggest that our family is affected by a novel XLMR syndrome...
- Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome
Emma Burkitt Wright
Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St Mary s Hospital, Manchester, UK
Clin Dysmorphol 20:15-20. 2011
..These features, together with a coarse facial appearance, relative macrocephaly and significant learning disabilities, were what had led to the earlier diagnostic suggestion of cardio-facio-cutaneous syndrome in each of these four cases...
- How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester, UK
Eur J Hum Genet 20:381-8. 2012
..Moreover, phenotypic variability of KS suggests that MLL2 testing should be considered even in atypical patients...
- Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance
Emma M M Burkitt Wright
Genetic Medicine Research Group, Manchester Biomedical Research Centre, Manchester Academic Health Sciences Centre, University of Manchester and Central Manchester Foundation Trust, St Mary s Hospital, Manchester M13 9WL, UK
Am J Hum Genet 88:767-77. 2011
..We show that ZNF469 and PRDM5, two genes that when mutated cause BCS, participate in the same regulatory pathway...
- Acromegaloid facial appearance syndrome: a further case report
Academic Department of Medical Genetics, St Mary s Hospital, Manchester
Clin Dysmorphol 13:251-3. 2004
..The patient's paternal grandmother also shows some features of the condition, suggesting autosomal dominant inheritance with incomplete penetrance in this family...