Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

abstract：BACKGROUND:Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta (OI) disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. OBJECTIVES:Here, we report a 3-year ol...

journal_title：Journal of medical genetics

authors： Balasubramanian M,Padidela R,Pollitt RC,Bishop NJ,Mughal MZ,Offiah AC,Wagner BE,McCaughey J,Stephens DJ

更新日期：2018-03-01 00:00:00

abstract：:We have performed linkage analysis in seven Italian families, in which mild osteogenesis imperfecta (OI) segregated as a dominant trait, by means of six DNA restriction fragment length polymorphisms (RFLPs) of type I collagen genes. OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha...

journal_title：Journal of medical genetics

authors： Mottes M,Cugola L,Cappello N,Pignatti PF

更新日期：1990-06-01 00:00:00

abstract：:We report two sibs with features overlapping those of orofaciodigital syndrome type VI (Varadi syndrome). Both presented at birth with oculomotor abnormalities, dysmorphic facial features, and dysgenesis of the cerebellar vermis. There were minimal oral manifestations (high arched palate) in both of them and one had p...

journal_title：Journal of medical genetics

authors： Al-Gazali LI,Sztriha L,Punnose J,Shather W,Nork M

更新日期：1999-02-01 00:00:00

abstract：:Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a female patient with mental retardation and a balanced translocation involving chromosomes X and 21, t(X;21)(p11.2;q22.3). Ph...

journal_title：Journal of medical genetics

authors： Lossi AM,Laugier-Anfossi F,Depetris D,Gecz J,Gedeon A,Kooy F,Schwartz C,Mattei MG,Croquette MF,Villard L

更新日期：2002-02-01 00:00:00

abstract：:A two generation family with neurofibromatosis type 2 (NF2) is presented in which a family member requested presymptomatic molecular diagnosis. Since the consultand's mother had clinically well defined NF2, he was quoted to be at 50% risk of carrying an NF2 mutation. Mutation screening in the mother did not show the c...

journal_title：Journal of medical genetics

authors： Bijlsma EK,Wallace AJ,Evans DG

更新日期：1997-11-01 00:00:00

abstract：:We report three sisters and their father with a reciprocal balanced translocation, rcp t(8;11)(q24.3;p15.1) and the same abnormal phenotypes, including mental retardation, growth disturbance, and amblyopia. It is considered that the abnormal phenotypes in our four cases might result from a tiny deletion or gene mutati...

journal_title：Journal of medical genetics

authors： Sato H,Takaya K,Nihira S,Fujita H

更新日期：1989-10-01 00:00:00

abstract：BACKGROUND:The diagnosis of calpainopathy is obtained by identifying calpain-3 protein deficiency or CAPN3 gene mutations. However, in many patients with limb girdle muscular dystrophy type 2A (LGMD2A), the calpain-3 protein quantity is normal because loss-of-function mutations cause its enzymatic inactivation. The ide...

journal_title：Journal of medical genetics

authors： Fanin M,Nascimbeni AC,Angelini C

更新日期：2007-01-01 00:00:00

abstract：BACKGROUND:Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The second group, the chaperonin-like proteins BBS6, BBS10, and B...

journal_title：Journal of medical genetics

authors： Billingsley G,Bin J,Fieggen KJ,Duncan JL,Gerth C,Ogata K,Wodak SS,Traboulsi EI,Fishman GA,Paterson A,Chitayat D,Knueppel T,Millán JM,Mitchell GA,Deveault C,Héon E

更新日期：2010-07-01 00:00:00

abstract：:A total of 592 cells was examined from 38 normal humans who had either small or very large Y chromosomes. Chromosome identification was based on the QFQ technique. The distance between the X and Y chromosome was measured from centromere to centromere. The spatial distance between X and Y was significantly smaller when...

journal_title：Journal of medical genetics

authors： Dosik D,Verma RS

更新日期：1983-12-01 00:00:00

abstract：BACKGROUND:Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and unknown duplications and deletions with the goal of distinguishing pathogenic from benign CNVs. A key step in this process is the comparison of the individ...

journal_title：Journal of medical genetics

authors： Köhler S,Schoeneberg U,Czeschik JC,Doelken SC,Hehir-Kwa JY,Ibn-Salem J,Mungall CJ,Smedley D,Haendel MA,Robinson PN

更新日期：2014-11-01 00:00:00

abstract：:We report on two brothers and one maternal cousin with severe mental retardation, microcephaly, short stature, cryptorchidism, and spastic diplegia. The patients were born to normal and non-consanguineous parents. All other members of the family, almost exclusively females, were clinically normal, suggesting X linked ...

journal_title：Journal of medical genetics

authors： Martínez F,Tomás M,Millán JM,Fernández A,Palau F,Prieto F

更新日期：1998-04-01 00:00:00

abstract：:The main purpose of this study was to see if the offspring of surviving neuroblastoma, ganglioneuroblastoma, or ganglioneuroma patients have themselves a risk for developing tumours. No such risk was found. There was a total of 45 liveborn children who were all healthy. These children have passed through about 37 life...

journal_title：Journal of medical genetics

authors： Bundey S,Evans K

更新日期：1982-02-01 00:00:00

abstract：BACKGROUND:The SCN8A gene on chromosome 12q13 encodes the voltage gated sodium channel Na(v)1.6, which is widely expressed in neurons of the CNS and PNS. Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders. METHODS:We screened the 26 coding exons of SCN8A in 151 patients with inherit...

journal_title：Journal of medical genetics

authors： Trudeau MM,Dalton JC,Day JW,Ranum LP,Meisler MH

更新日期：2006-06-01 00:00:00

abstract：:Germline mutations in highly penetrant autosomal dominant genes explain about 5% of all breast cancer, and heritable mutations in the BRCA1 breast and ovarian cancer susceptibility gene account for 2-3% of breast cancer in the general population. Nevertheless, the presence of such mutations is highly predictive of dis...

journal_title：Journal of medical genetics

authors： Chang-Claude J,Dong J,Schmidt S,Shayeghi M,Komitowski D,Becher H,Stratton MR,Royer-Pokora B

更新日期：1998-02-01 00:00:00

abstract：BACKGROUND:Mitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases commonly results in requests from at-risk couples for prenatal diagnosis (PND), based on determination of the mutant load o...

journal_title：Journal of medical genetics

authors： Vachin P,Adda-Herzog E,Chalouhi G,Elie C,Rio M,Rondeau S,Gigarel N,Jabot Hanin F,Monnot S,Borghese R,Bengoa J,Ville Y,Rotig A,Munnich A,Bonnefont JP,Steffann J

更新日期：2018-02-01 00:00:00

abstract：:The accidental discovery, in an inguinal hernia, of a male gonad in a 67-year-old woman is reported. The association of an unambiguous female phenotype with a purely male karyotype and a male gonad suggests the diagnosis of testicular feminisation. The differential diagnosis, particularly of testicular feminisation wi...

journal_title：Journal of medical genetics

authors： Schindler AM,Csank-Brassert J

更新日期：1978-06-01 00:00:00

abstract：:The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in t...

journal_title：Journal of medical genetics

authors： Pivnick EK,Furman WL,Velagaleti GV,Jenkins JJ,Chase NA,Ribeiro RC

更新日期：1998-04-01 00:00:00

abstract：:Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumour predisposition syndrome caused by heterozygous germline mutations in the fumarate hydratase (FH) gene. The condition is characterised by predisposition to benign leiomyomas of the skin and the uterus, renal cell carcinoma (RCC), and uterine leiomyosar...

journal_title：Journal of medical genetics

authors： Lehtonen HJ,Kiuru M,Ylisaukko-Oja SK,Salovaara R,Herva R,Koivisto PA,Vierimaa O,Aittomäki K,Pukkala E,Launonen V,Aaltonen LA

更新日期：2006-06-01 00:00:00

abstract：:We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with craniosynostotic disorders were screened with a variety of methods including conventional karyotype, microsatellite segregation analysis, subtelomeric multiplex ligation...

journal_title：Journal of medical genetics

authors： Jehee FS,Krepischi-Santos AC,Rocha KM,Cavalcanti DP,Kim CA,Bertola DR,Alonso LG,D'Angelo CS,Mazzeu JF,Froyen G,Lugtenberg D,Vianna-Morgante AM,Rosenberg C,Passos-Bueno MR

更新日期：2008-07-01 00:00:00

abstract：:We describe 14 boys and six girls, including monozygotic twins, with the CHARGE association. All of the children had at least four of the seven major features included in the mnemonic CHARGE and all had ear anomalies or deafness or both and either coloboma or choanal atresia or both. All the boys had evidence of hypog...

journal_title：Journal of medical genetics

authors： Oley CA,Baraitser M,Grant DB

更新日期：1988-03-01 00:00:00

abstract：:The frequency of chromosome aberrations in the lymphocytes of three established heterozygotes for the Bloom's syndrome gene (ages 67, 57, 46) was compared to that in controls (ages 68, 67, 61, 46, 34). The main part of the study was done on coded slides. No difference was found between the heterozygotes and the contro...

journal_title：Journal of medical genetics

authors： Kuhn EM,Therman E

更新日期：1979-06-01 00:00:00

abstract：BACKGROUND:Several different missense mutations in the voltage-gated sodium channel subunit gene SCN1A have been identified in epileptic patients with benign phenotype and patients with severe phenotype. However, the reason why similar missense mutations in SCN1A result in different phenotypes has not yet been fully cl...

journal_title：Journal of medical genetics

authors： Kanai K,Yoshida S,Hirose S,Oguni H,Kuwabara S,Sawai S,Hiraga A,Fukuma G,Iwasa H,Kojima T,Kaneko S

更新日期：2009-10-01 00:00:00

abstract：BACKGROUND:Heterozygous germline PMS2 variants are responsible for about 5% of Lynch syndrome (LS) but their prevalence is most likely underestimated because of complicated routine screening caused by highly homologous pseudogenes. Consequently, there is limited knowledge on the implication of the PMS2 gene in LS. MET...

journal_title：Journal of medical genetics

authors： Wang Q,Leclerc J,Bougeard G,Olschwang S,Vasseur S,Cassinari K,Boidin D,Lefol C,Naïbo P,Frébourg T,Buisine MP,Baert-Desurmont S,French Consortium of Oncogenetic laboratories for colorectal cancers, Unicancer Cancer Genetic Group (

更新日期：2020-07-01 00:00:00

abstract：:This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitia...

journal_title：Journal of medical genetics

authors： Menten B,Buysse K,Zahir F,Hellemans J,Hamilton SJ,Costa T,Fagerstrom C,Anadiotis G,Kingsbury D,McGillivray BC,Marra MA,Friedman JM,Speleman F,Mortier G

更新日期：2007-04-01 00:00:00

abstract：BACKGROUND:Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended by consensus guidelines. OBJECTIVES:Our study aimed to give a complete description of our TSC adult coh...

journal_title：Journal of medical genetics

authors： Pfirmann P,Aupy J,Jambon E,Idier L,Prezelin-Reydit M,Fermis M,Devillard R,Grenier N,Combe C,Rigothier C

更新日期：2021-01-01 00:00:00

abstract：:A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome. ...

journal_title：Journal of medical genetics

authors： Herr HM,Horton SJ,Scott CI Jr

更新日期：1985-04-01 00:00:00

abstract：:A family is described in which the mother's four pregnancies resulted in one spontaneous abortion, one healthy boy, and a male and female sib with developmental delay and multiple minor dysmorphic features. Chromosome analysis showed a large pericentric inversion of chromosome 10, involving the region between bands p1...

journal_title：Journal of medical genetics

authors： Roberts P,Williams J,Sills MA

更新日期：1989-07-01 00:00:00

abstract：BACKGROUND:Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein. These proteins constitute together with cyclophilin B (CyPB) the prolyl 3-hydroxylation complex that hydroxylates the Pro986 residue...

journal_title：Journal of medical genetics

authors： Willaert A,Malfait F,Symoens S,Gevaert K,Kayserili H,Megarbane A,Mortier G,Leroy JG,Coucke PJ,De Paepe A

更新日期：2009-04-01 00:00:00

abstract：:A cohort of 33 people at risk for Huntington's disease (HD), applying for genetic testing, were tested with a battery of neuropsychological tests covering attentional, visuospatial, learning, memory, and planning functions. A psychiatric rating scale, SCL-90R, was also applied, mainly as a control, since cognitive dys...

journal_title：Journal of medical genetics

authors： Rosenberg NK,Sørensen SA,Christensen AL

更新日期：1995-08-01 00:00:00

abstract：:Two half sibs with bilateral complete cleft lip and complete cleft of the palate associated with ectrodactyly of the hands and feet, born to the same phenotypically normal mother, are reported. The younger of the two sibs also has dominantly inherited tremors (also referred to as essential heredofamilial tremors) as d...

journal_title：Journal of medical genetics

authors： Lewis MB,Pashayan HM

更新日期：1981-10-01 00:00:00