Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

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 Dysmorphol

journal_title

Clinical dysmorphology

authors

McDermott JH,Byers H,Clayton-Smith J

doi

10.1097/MCD.0000000000000099

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

16-8

issue

1

eissn

0962-8827

issn

1473-5717

journal_volume

25

pub_type

杂志文章
  • GATAD2B-related intellectual disability due to parental mosaicism and review of literature.

    abstract::GATA zinc finger domain-containing 2B (GATAD2B) encodes p66beta, a subunit of transcription repressor complex methyl-CpG-binding protein-1 histone deacetylase complex/nucleosome remodelling and deacetylase, and mediates gene silencing. Pathogenic variants in GATAD2B are known to cause mental retardation, autosomal dom...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章,评审

    doi:10.1097/MCD.0000000000000288

    authors: Kaur P,Mishra S,Rajesh SM,Girisha KM,Shukla A

    更新日期:2019-10-01 00:00:00

  • Cantu syndrome and lymphoedema.

    abstract::Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as obse...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e32833d015c

    authors: García-Cruz D,Mampel A,Echeverria MI,Vargas AL,Castañeda-Cisneros G,Davalos-Rodriguez N,Patiño-Garcia B,Garcia-Cruz MO,Castañeda V,Cardona EG,Marin-Solis B,Cantu JM,Nuñez-Reveles N,Moran-Moguel C,Thavanati PK,Ramirez-Garcia

    更新日期:2011-01-01 00:00:00

  • Familial Williams-Beuren syndrome ascertained by screening rather than targeted diagnosis.

    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

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e3283520539

    authors: Rafati M,Seyyedaboutorabi E,Brujerdi R,Moossavi S,Ghaffari SR

    更新日期:2012-07-01 00:00:00

  • Handless, footless fetus.

    abstract::We report a fetus with symmetrical terminal transverse limb deficiency. Two earlier reports described patients with similar defects. These patients resemble the animal models that result from the removal of apical ectodermal ridge. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/01.mcd.0000220612.63025.4b

    authors: Phadke SR,Girisha KM,Dalal A

    更新日期:2006-10-01 00:00:00

  • De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].

    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:

    authors: Schrander-Stumpel C,Havenith M,Linden EV,Maertzdorf W,Offermans J,van der Harten J

    更新日期:1994-10-01 00:00:00

  • Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face.

    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

    authors: Eggermann T,Krause-Plonka I,Wollmann HA,Zerres K,Dai G,Meyer E,Bartsch O

    更新日期:2006-01-01 00:00:00

  • Catel-Manzke syndrome without cleft palate: a case report.

    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

    authors: Puri RD,Phadke SR

    更新日期:2003-10-01 00:00:00

  • A case of diencephalic syndrome presenting with isolated lipodystrophy.

    abstract::Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who was referred to a clinical genetics service for investigation of lipodystrophy...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0000000000000235

    authors: McDermott JH,Harris J,Fédée J,Skae M,Semple R,Douzgou S

    更新日期:2018-10-01 00:00:00

  • On the association of Poland anomaly and primary microcephaly.

    abstract::In this report we describe a moderately mentally retarded female child with the association of Poland's anomaly and primary microcephaly with marked neuronal migration disturbances, cortical atrophy and white substance hypoplasia. This observation further supports the suggestion that the subclavian artery supply disru...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Fryns JP,de Smet L

    更新日期:1994-10-01 00:00:00

  • A child with oligo-syndactyly and 'apple peel' bowel atresia.

    abstract::A baby with 'apple peel' jejunal atresia and limb abnormalities is described. The literature on 'apple peel' atresia is reviewed and the possible aetiology is discussed. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Cook JA,Bennett C

    更新日期:1995-01-01 00:00:00

  • Severe malformation of one foot from amniocentesis needle injury.

    abstract::An 11-year-old boy is described who was born with a poorly developed right foot. At 16 weeks gestation his mother had had amniocentesis without direct ultrasound guidance. After the insertion of the amniocentesis needle, she felt strong abdominal resistance, which disappeared with slight withdrawal of the needle. Then...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-199707000-00013

    authors: Holmes LB

    更新日期:1997-07-01 00:00:00

  • Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?

    abstract::We report two sibs of consanguineous parents with multiple congenital abnormalities which include prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease and early lethality. We think this constellation of anomalies may ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: al Gazali LI,al Talabani J,Mosawi A,Lytle W

    更新日期:1994-07-01 00:00:00

  • Pili bifurcati: occurring in association with the mosaic trisomy 8 syndrome.

    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:

    authors: Breslau-Siderius LJ,Beemer FA,Boom BW

    更新日期:1996-07-01 00:00:00

  • Chondrodysplasia punctata: a clinical diagnostic and radiological review.

    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

    authors: Irving MD,Chitty LS,Mansour S,Hall CM

    更新日期:2008-10-01 00:00:00

  • Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?

    abstract::We report two sisters with growth failure, relative microcephaly, peculiar facies and apical dystrophy (brachydactyly type B). They had shortness and clinodactyly of the 5th fingers, aplasia or hypoplasia of the distal phalanges of 5th fingers, short medial phalanges of the 2nd and 5th fingers, hypoplasia or aplasia o...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Ounap K,Justus I,Lipping-Sitska M

    更新日期:1998-01-01 00:00:00

  • Two patients with varying combinations of sternal cleft, haemangiomas, midline abdominal raphe, coarctation of the aorta with a right aortic arch.

    abstract::We report two patients, one with sternal cleft, haemangiomas, supraumbilical midline raphe and the other with a sternal cleft, haemangiomas, coarctation of the aorta with a right aortic arch. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200009020-00005

    authors: Crisponi G,Marras AR,Corrias A,Memo L,Gorinati M,Flora PG

    更新日期:2000-04-01 00:00:00

  • Syndromes associated with trichothiodystrophy.

    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:

    authors: Tolmie JL,de Berker D,Dawber R,Galloway C,Gregory DW,Lehmann AR,McClure J,Pollitt RJ,Stephenson JB

    更新日期:1994-01-01 00:00:00

  • Trigonocephaly and Wilson's disease in two siblings.

    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

    authors: Cogulu O,Onay H,Ozgenc F,Karaca E,Gunduz C,Tzetis M,Cankaya T,Kanavakis E,Ozkinay F

    更新日期:2005-07-01 00:00:00

  • An unusual fetus with complete absence of thoracic, lumbar and sacral vertebrae, bilateral renal agenesis, VSD, meningomyelocele, imperforate anus, and teratoma.

    abstract::We present a 30 week old male fetus who had a very interesting malformation complex which can not be explained by teratogenic or hereditary diseases. The aim of this paper is to discuss this complicated entity and compare it with other reported cases. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200101000-00012

    authors: Semerci CN,Bebitoglu I,Kaçar A,Yurttagül S,Erçakmak S,Ertoy D,Ozaltin F,Balci S

    更新日期:2001-01-01 00:00:00

  • Fetus with unbalanced translocation involving chromosomes 2 and 11.

    abstract::We report a fetus with an unbalanced translocation between chromosomes 2 and 11, the product of a paternal balanced reciprocal translocation, fetal karyotype 46, XX, -11, +der(11)t(2;11) (q35;q24.1)pat. The fetus had unusual facial features. The relevance of this case to mapping of the type I Waardenburg syndrome gene...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Norman AM,Read AP,Clark A,Haslam J,Donnai D

    更新日期:1992-01-01 00:00:00

  • A trisomy 2 fetus with severe neural tube defects and other abnormalities.

    abstract::Examination of an abortus from a 13 week miscarriage revealed a fetus of around 9 weeks developmental age with multiple abnormalities including microcephaly, iniencephaly and encephalocele continuous with cervical and thoracic spina bifida, whose karyotype was subsequently shown to be 47,XY, + 2. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200401000-00006

    authors: Seller MJ,Mazzaschi R,Ogilvie CM,Mohammed S

    更新日期:2004-01-01 00:00:00

  • Supernumerary nostrils together with oesophageal atresia and patent ductus arteriosus.

    abstract::Supernumerary nostril is an extremely rare congenital anomaly. It can be unilateral or bilateral and it sometimes occurs in association with other congenital abnormalities. We describe a newborn infant with bilateral supernumerary nostrils together with oesophageal atresia and patent ductus arteriosus, an association ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e3281e668fd

    authors: Numanoglu V,Ermis B,Dursun A,Battal F,Ornek Z,Dogan SM,Ugur B

    更新日期:2007-10-01 00:00:00

  • Siblings with Bohring-Opitz syndrome.

    abstract::We describe a brother and sister with Bohring-Opitz syndrome and suggest that autosomal recessive inheritance may occur in this condition. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200301000-00003

    authors: Greenhalgh KL,Newbury-Ecob RA,Lunt PW,Dolling CL,Hargreaves H,Smithson SF

    更新日期:2003-01-01 00:00:00

  • Desbuquois syndrome: three further cases and review of the literature.

    abstract::We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pédiatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal recessive inheritance of this condition. The patients p...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章,评审

    doi:

    authors: Gillessen-Kaesbach G,Meinecke P,Ausems MG,Nöthen M,Albrecht B,Beemer FA,Zerres K

    更新日期:1995-04-01 00:00:00

  • Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.

    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

    authors: Canham NL,Holder SE

    更新日期:2008-10-01 00:00:00

  • Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.

    abstract::We report four children with unusual facial features including severe blepharophimosis, ptosis, and a distinctive nose with a broad flat tip and a depressed bridge. All four patients were markedly hypotonic and had severe feeding difficulties and developmental delay. Two had congenital heart defects and all three who ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Clayton-Smith J,Krajewska-Walasek M,Fryer A,Donnai D

    更新日期:1994-04-01 00:00:00

  • Anterior segment dysgenesis and absent lens caused by amniotic bands.

    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

    authors: Datta H,Datta S

    更新日期:2003-01-01 00:00:00

  • A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.

    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

    authors: Ruiter M,Koolen DA,Pfundt R,de Leeuw N,Klinkers HM,Sistermans EA,Veltman JA,de Vries BB

    更新日期:2006-07-01 00:00:00

  • Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

    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

    authors: al-Gazali LI,Bakalinova D

    更新日期:1998-07-01 00:00:00

  • Polydactyly in a boy with Smith-Magenis syndrome.

    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

    authors: Mariannejensen L,Kirchhoff M

    更新日期:2005-10-01 00:00:00