Genetic causes of moderate to severe hearing loss point to modifiers.

abstract：BACKGROUND:Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation. METHODS:Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared...

journal_title：Clinical genetics

authors： Burgel PR,Fajac I,Hubert D,Grenet D,Stremler N,Roussey M,Siret D,Languepin J,Mely L,Fanton A,Labbé A,Domblides P,Vic P,Dagorne M,Reynaud-Gaubert M,Counil F,Varaigne F,Bienvenu T,Bellis G,Dusser D

更新日期：2010-04-01 00:00:00

abstract：:CHARGE syndrome is a multiple congenital anomaly syndrome that can be life-threatening in the neonatal period. Complex heart defects, bilateral choanal atresia, esophageal atresia, severe T-cell deficiency, and brain anomalies can cause neonatal death. As little is known about the causes of death in childhood and adol...

journal_title：Clinical genetics

authors： Bergman JE,Blake KD,Bakker MK,du Marchie Sarvaas GJ,Free RH,van Ravenswaaij-Arts CM

更新日期：2010-03-01 00:00:00

abstract：:Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia. Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome. Here, we analyzed the correlation between genotype and various inner ear phenotypes and found a possible underlying...

journal_title：Clinical genetics

authors： Lee HJ,Jung J,Shin JW,Song MH,Kim SH,Lee JH,Lee KA,Shin S,Kim UK,Bok J,Lee KY,Choi JY,Park HJ

更新日期：2014-09-01 00:00:00

abstract：:We describe a pedigree in which four male members are affected by a contiguous gene abnormality involving the short arm of the X chromosome (Xp22.32). Bivariate flow cytometry of lymphoblastoid cell lines from two of these individuals and a normal male showed a 6-7 megabase deletion in affected males, and high resolut...

journal_title：Clinical genetics

authors： Bouloux PM,Kirk J,Munroe P,Duke V,Meindl A,Hilson A,Grant D,Carter N,Betts D,Meitinger T

更新日期：1993-04-01 00:00:00

abstract：:Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies which cause syncope and sudden death. LQT1, due to mutations of KCNQ1 (KVLQT1), is the most common form. This study describes the genotype-phenotype characteristics in 10 families with mutations of KCNQ1, including 5 novel mutations. One hundr...

journal_title：Clinical genetics

authors： Chen S,Zhang L,Bryant RM,Vincent GM,Flippin M,Lee JC,Brown E,Zimmerman F,Rozich R,Szafranski P,Oberti C,Sterba R,Marangi D,Tchou PJ,Chung MK,Wang Q

更新日期：2003-04-01 00:00:00

abstract：:Silver-Russell syndrome (SRS) is a genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, typical facial features and a spectrum of additional features including body and limb asymmetry and clinodactyly. Maternal uniparental disomy for chromosome 7 (upd(7)mat) was shown to o...

journal_title：Clinical genetics

authors： Behnecke A,Hinderhofer K,Jauch A,Janssen JW,Moog U

更新日期：2012-11-01 00:00:00

abstract：:Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and t...

journal_title：Clinical genetics

authors： Tommerup N,Warburg M,Gieselmann V,Hansen BR,Koch J,Petersen GB

更新日期：1992-10-01 00:00:00

abstract：:Detection of the cystic fibrosis (CF) heterozygote by testing for cystic fibrosis factor activity (CFFA) in serum samples using bioassays had been reported to give unreliable results. The present study was undertaken to find whether the use of medium from short term white blood cell or skin fibroblast cultures, rather...

journal_title：Clinical genetics

authors： Danes BS

更新日期：1975-02-01 00:00:00

abstract：:A third case of an interstitial deletion of the long arm of chromosome 6 with clinical features mimicking Prader-Willi syndrome (PWS) is presented. Although preliminary clinical evaluation in each case suggested PWS, further review revealed that the features in all three cases are not completely compatible with the ch...

journal_title：Clinical genetics

authors： Stein CK,Stred SE,Thomson LL,Smith FC,Hoo JJ

更新日期：1996-06-01 00:00:00

abstract：:We present the findings of a "new" sublethal MCA syndrome in three siblings, one female and two boys, the only children of healthy, non-consanguineous parents. In addition to prenatal growth retardation and early demise, they presented the same pattern of multiple malformations: relative microcephaly with bird-headed ...

journal_title：Clinical genetics

authors： Fryns JP,Verresen H,Van den Berghe H

更新日期：1997-03-01 00:00:00

abstract：:Mutations in IRF6 cause Van der Woude syndrome (VWS), one of the most common syndromes associated with cleft lip (CL) with or without cleft palate (CP). The presence of pits on the lower lip of patients is the most characteristic feature of the syndrome. We have identified three novel and seven previously reported IRF...

journal_title：Clinical genetics

authors： Malik S,Kakar N,Hasnain S,Ahmad J,Wilcox ER,Naz S

更新日期：2010-09-01 00:00:00

abstract：:In this paper we report a 22-year-old male with an asymmetric skeletal dysplasia, affecting almost the whole right part of the body and closely resembling pseudoachondroplastic dysplasia. This "segmental" type of chondrodysplasia is apparently another rare example of a somatic mutation of an autosomal dominant gene in...

journal_title：Clinical genetics

authors： Fryns JP,van den Berghe H

更新日期：1986-10-01 00:00:00

abstract：:Sudden cardiac death (SCD) has an enormous impact on those who are left behind, evoking strong feelings of anxiety and incomprehension because such a dramatic event was not anticipated. Moreover, over the last decade a prominent genetic contribution to the pathogenesis of SCD has been unveiled. As many inherited cardi...

journal_title：Clinical genetics

authors： Saenen JB,Van Craenenbroeck EM,Proost D,Marchau F,Van Laer L,Vrints CJ,Loeys BL

更新日期：2015-08-01 00:00:00

abstract：:The responsibility to provide accessible, useful genetic counseling to individuals from many cultures and ethnicities arises from the increasing ethnocultural diversity of the populations served, coupled with the ethical goal of providing equal access and quality of services for all individuals. The multicultural educ...

journal_title：Clinical genetics

authors： Weil J

更新日期：2001-03-01 00:00:00

abstract：:We describe a family with recurrent 11q23-qter deletion Jacobsen syndrome in two affected brothers, with unique mosaic deletion 'rescue' through development of uniparental disomy (UPD) in the mother and one of the brothers. Inheritance studies show that the deleted chromosome is of maternal origin in both boys, and mi...

journal_title：Clinical genetics

authors： Johnson JP,Haag M,Beischel L,McCann C,Phillips S,Tunby M,Hansen J,Schwanke C,Reynolds JF

更新日期：2014-04-01 00:00:00

abstract：:The deletions of 4.4 and 3.2 kb identified in exons 24 and 20, respectively, are two of the four most common mutations in the BRCA1 gene in Greek breast cancer patients. They have been reported previously six and three times, respectively, in unrelated Greek families. A total of 11 more families have been identified i...

journal_title：Clinical genetics

authors： Pertesi M,Konstantopoulou I,Yannoukakos D

更新日期：2011-10-01 00:00:00

abstract：:Kidney and urinary tract malformations are among the most frequent developmental defects identified in newborns. Ranging from asymptomatic to neonatal lethal, these malformations represent an important clinical challenge. Recent progress in understanding the developmental origin of urinary tract defects in the mouse a...

journal_title：Clinical genetics

authors： Uetani N,Bouchard M

更新日期：2009-04-01 00:00:00

abstract：:Myotonic dystrophy (MD) is an autosomal dominant disorder that has a high prevalence in Saguenay-Lac-St-Jean. A case-control study, based on a population register, of 373 MD patients who married in this region between 1855 and 1971 was conducted to determine whether their fertility was affected by the disorder. Six de...

journal_title：Clinical genetics

authors： Dao TN,Mathieu J,Bouchard JP,De Braekeleer M

更新日期：1992-11-01 00:00:00

abstract：:In 100 children with Down syndrome (DS), the parental origin of the supernumery chromosome 21 was investigated. In 76 out of the 100 cases the polymorphic regions were informative, i.e. the nondisjunction could be traced. Assessment of the alpha 1-antitrypsin/alpha 1-protease inhibitor (PI) types in these DS children ...

journal_title：Clinical genetics

authors： Jongbloet PH,Frants RR,Hamers AJ

更新日期：1981-10-01 00:00:00

abstract：:While there are many reports in the literature of mutation testing of BRCA1 and BRCA2 in breast/ovarian cancer families, the question of which type of ovarian cancers are relevant still pertains. We have undertaken whole gene screening including multiple ligation-dependent probe amplification in an affected individual...

journal_title：Clinical genetics

authors： Evans DG,Young K,Bulman M,Shenton A,Wallace A,Lalloo F

更新日期：2008-04-01 00:00:00

abstract：:Endothelin is a peptide reported to be one of the most potent vasoconstrictors known. Presumably, endothelin could play a role in the physiological regulation of blood pressure in healthy or hypertensive people. We have studied a normal restriction fragment length polymorphism (RFLP) at the endothelin-I (EDN1) locus d...

journal_title：Clinical genetics

authors： Berge KE,Berg K

更新日期：1992-02-01 00:00:00

abstract：:Plasma lipid and serum apoprotein concentrations were determined in twenty-nine individuals with Gaucher type I disease. Plasma total cholesterol, low density lipoprotein (LDL) cholesterol and high density lipoprotein (HDL) cholesterol were all significantly reduced in the patients with Gaucher disease compared to a g...

journal_title：Clinical genetics

authors： Ginsberg H,Grabowski GA,Gibson JC,Fagerstrom R,Goldblatt J,Gilbert HS,Desnick RJ

更新日期：1984-08-01 00:00:00

abstract：:For Incontinentia pigmenti Bloch-Sulzberger (IP) and Aicardi syndrome, an X-linked dominant transmission with lethality in hemizygous males has been proposed. The typical transition from inflammation to verrucous hypertrophy and hyperpigmented skin areas in IP suggests a gradual replacement of defective cells by norma...

journal_title：Clinical genetics

authors： Wieacker P,Zimmer J,Ropers HH

更新日期：1985-09-01 00:00:00

abstract：:Several genome-wide association studies (GWASs) in Caucasian populations have identified 12 loci that are significantly associated with migraine. More evidence suggests that serotonin receptors are also involved in migraine pathophysiology. In the present study, a case-control study was conducted in a cohort of 581 mi...

journal_title：Clinical genetics

authors： An XK,Fang J,Yu ZZ,Lin Q,Lu CX,Qu HL,Ma QL

更新日期：2017-08-01 00:00:00

abstract：:A single mandibular incisor and an unusually narrow mandible and tongue were noted in an 8-year-old moderately retarded boy with 18p- (45, XY, der dic (18) (18qter-p11.2::22p 11.2-qter). While a single maxillary incisor, considered a minor feature of holoprosencephaly, was reported in three cases of 18p-, reduction of...

journal_title：Clinical genetics

authors： Pfeiffer RA,Hertrich K,Cohen M

更新日期：1994-12-01 00:00:00

abstract：:The frequency of rare fragile sites was studied among 240 children in special schools for subnormal intelligence (IQ 52-85). 1/130 boys studied (0.8%) had the fragile site at Xq27.3 while it was not found in any girl (0/110). In two children an autosomal rare fragile site at 2q11.2 (2/240, 0.8%) was seen. In addition ...

journal_title：Clinical genetics

authors： Kähkönen M,Leisti J,Thoden CJ,Autio S

更新日期：1986-09-01 00:00:00

abstract：:Mutations in the NPC1 or NPC2 gene are responsible for Niemann-Pick type C (NPC) disease (OMIM #257220), an autosomal recessive neurodegenerative lysosomal storage disorder caused by an incorrect regulation of intracellular lipid trafficking. A molecular analysis carried out in 30 unrelated patients identified 43 dist...

journal_title：Clinical genetics

authors： Macías-Vidal J,Rodríguez-Pascau L,Sánchez-Ollé G,Lluch M,Vilageliu L,Grinberg D,Coll MJ,Spanish NPC Working Group.

更新日期：2011-07-01 00:00:00

abstract：:The Schimmelpenning-Feuerstein-Mims syndrome (SFM), characterized by linear nevus sebaceous and ocular and neurologic abnormalities, is a sporadic condition without known familial cases or etiology. We report the occurrence of SFM in only one of two monozygotic (MZ) twins. After considering a variety of possible causa...

journal_title：Clinical genetics

authors： Schworm HD,Jedele KB,Holinski E,Hörtnagel K,Rudolph G,Boergen KP,Kampik A,Meitinger T

更新日期：1996-11-01 00:00:00

abstract：:One hundred and eighty-one male and 48 female myocardial infarction (MI) survivors and 172 male and 194 female controls were studied with respect to a possible association between premature parental MI (before age 61 years in mothers and/or before age 56 years in fathers) and an insertion/deletion (I/D) polymorphism i...

journal_title：Clinical genetics

authors： Bøhn M,Berge KE,Bakken A,Erikssen J,Berg K

更新日期：1993-12-01 00:00:00

abstract：:Mental retardation affects 1-3% of the general population, and the genetic causes in many cases are unknown. Cytogenetically undetected chromosomal imbalances have been indicated as an explanation. Nowadays, due to the development of molecular cytogenetic techniques, it is possible to identify cryptic rearrangements i...

journal_title：Clinical genetics

authors： Rodriguez-Revenga L,Badenas C,Sánchez A,Mallolas J,Carrió A,Pedrinaci S,Barrionuevo JL,Milà M

更新日期：2004-01-01 00:00:00