Abstract:
:The megalencephaly capillary malformation syndrome (MCAP, OMIM 602501) is known to be associated with mosaic mutations in PIK3CA occurring during embryogenesis. Standard sequencing technologies are relatively poor at indentifying sequence changes that only affect a small percentage of cells, and the mutations are frequently not identified in lymphocyte DNA, with biopsies of the affected tissues often being required to detect mosaic mutations. Such invasive procedures are not always acceptable to parents. We describe the case of a patient in whom we were able to confirm a causative PIK3CA mutation, first found thorugh next-generation sequencing, in several tissue types including a secondary tooth. As part of this work, we were also able to begin validating dental tissue for potential use in genetic testing, as we achieved excellent DNA yields with minimal effort, even from deciduous teeth shed some years earlier.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
McDermott JH,Byers H,Clayton-Smith Jdoi
10.1097/MCD.0000000000000099subject
Has Abstractpub_date
2016-01-01 00:00:00pages
16-8issue
1eissn
0962-8827issn
1473-5717journal_volume
25pub_type
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
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journal_title:Clinical dysmorphology
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doi:10.1097/MCD.0b013e32833d015c
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abstract::Williams-Beuren syndrome (WBS), a contiguous gene deletion syndrome, mostly occurs sporadically. Although a few cases of familial WBS have been reported in the literature, molecular confirmation of the deletion has not been carried out in all of them. Here, we report on the eighth clinically and molecularly confirmed ...
journal_title:Clinical dysmorphology
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doi:10.1097/MCD.0b013e3283520539
更新日期:2012-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000220612.63025.4b
更新日期:2006-10-01 00:00:00
abstract::We report a male infant with de la Chapelle dysplasia (atelosteogenesis type II), a skeletal dysplasia characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia. This is a rare condition with only 10 patients described ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:
更新日期:1994-10-01 00:00:00
abstract::We report on a 12-month-old boy with pre and post-natal growth retardation, triangular face and mild psychomotor retardation. Karyotyping revealed a supernumerary marker chromosome (SMC) in 36% of cells. Using fluorescence in situ hybridization and BAC clones, the supernumerary marker chromosome was found to be a high...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000181605.55382.9a
更新日期:2006-01-01 00:00:00
abstract::We report a boy who presented with mild facial dysmorphism, pectus excavatum, bilateral brachydactyly and ulnar deviation of both index fingers. Radiological examination of the hands showed abnormal proximal phalanges of the second digits. This case differs from the classical Catel-Manzke syndrome in having isolated h...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200310000-00015
更新日期:2003-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000235
更新日期:2018-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1995-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199707000-00013
更新日期:1997-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-07-01 00:00:00
abstract::The trisomy 8 mosaic syndrome may present in many different ways. We present a rare hair anomaly in a patient with this syndrome. ...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:
更新日期:1996-07-01 00:00:00
abstract::Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. Several classification systems of the different types of CDP have been suggested earlier. More recently, the bioche...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/MCD.0b013e3282fdcc70
更新日期:2008-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009020-00005
更新日期:2000-04-01 00:00:00
abstract::Sparse, brittle, sulphur-deficient hair is an excellent marker for several autosomal recessive neurocutaneous syndromes. The term 'trichothiodystrophy' is commonly used in publications on such syndromes and the best characterized trichothiodystrophy syndrome is associated with skin photosensitivity and intellectual im...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
abstract::Trigonocephaly and Wilson's disease (WD) are two different entities. The former is a type of craniosynostosis that occurs because of fusion of the metopic suture and the latter, also called hepatolenticular degeneration, is caused by an accumulation of copper in tissues all over the body because of failure of copper e...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200507000-00013
更新日期:2005-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200101000-00012
更新日期:2001-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200401000-00006
更新日期:2004-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3281e668fd
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200301000-00003
更新日期:2003-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:
更新日期:1995-04-01 00:00:00
abstract::Macrocephaly-cutis marmorata telangiectatica congenita was first identified as a distinct syndrome in 1997. Since then there have been more than 10 further reports of the condition, several also comprising reviews of the earlier literature. Virtually all reported patients, however, are young children, and there is ver...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3283136948
更新日期:2008-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
abstract::A male infant is described with anterior segment dysgenesis and absent lens caused by amniotic bands. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200301000-00013
更新日期:2003-01-01 00:00:00
abstract::We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stat...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000220605.94413.bb
更新日期:2006-07-01 00:00:00
abstract::We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these ch...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199807000-00004
更新日期:1998-07-01 00:00:00
abstract::Smith-Magenis syndrome is a microdeletion syndrome involving chromosome 17p11.2. The characteristic features include mental retardation, dysmorphic facial features, minor skeletal anomalies including brachydactyly and behavioural abnormalities, such as disturbed sleep pattern, restlessness and self-destructive behavio...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200510000-00004
更新日期:2005-10-01 00:00:00