Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Abstract:

:The Pakistani population has become an important resource for research on autosomal recessive non-syndromic hearing impairment (ARNSHI) due to the availability of large extended and highly consanguineous pedigrees. Here is presented the first report on the prevalence of gap junction beta-2 (GJB2) variants in Pakistan. One hundred and ninety-six unrelated Pakistani families with ARNSHI were recruited for a study on the genetics of NSHI. DNA sequencing of the GJB2 coding region was done on two affected individuals per family. Evolutionary conservation and predicted effect on the protein product were studied in order to hypothesize whether or not a variant was potentially deleterious. Homozygous putatively functional GJB2 variants were identified in 6.1% of families. None of the putatively functional GJB2 variants were observed in the compound heterozygous state. The six putatively causative variants noted were 231G > A(W77X), 71G > A(W24X), 167delT, 95G > A(R32H), 358-360delGAG(delE120), and 269T > C(L90P), with 231G > A(W77X) and 71G > A(W24X) being the most common. In addition, five benign polymorphisms, 380G > A(R127H), 457G > A(V153I), 493C > T(R165W), 79G > A(V27I), and 341 A > G(E114G), were identified within this population. In a few individuals, benign polymorphisms were observed to occur on the same haplotype, namely [457G > A(V153I); 493C > T(R165W)] and [79G > A(V27I); 341 A > G(E114G)]. The spectrum of GJB2 sequence variants in Pakistan may reflect shared origins of hearing impairment alleles within the Indian subcontinent. The high degree of consanguinity within Pakistan may have maintained the GJB2 prevalence at a much lower rate than within India and other populations.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Santos RL,Wajid M,Pham TL,Hussan J,Ali G,Ahmad W,Leal SM

doi

10.1111/j.1399-0004.2005.00379.x

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

61-8

issue

1

eissn

0009-9163

issn

1399-0004

pii

CGE379

journal_volume

67

pub_type

杂志文章
  • Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.

    abstract::Rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder, is considered to be a lethal neonatal autosomal recessive chondrodysplasia. We report five patients, three of whom survived beyond 1 year, and we summarize the findings in 21 patients from a literature review who survived beyond 1 year. In those pati...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审

    doi:10.1111/j.1399-0004.1990.tb03554.x

    authors: Wardinsky TD,Pagon RA,Powell BR,McGillivray B,Stephan M,Zonana J,Moser A

    更新日期:1990-08-01 00:00:00

  • Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome.

    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

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1997.tb02446.x

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

    更新日期:1997-03-01 00:00:00

  • Non-progressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity.

    abstract::Severe deficiency of arylsulphatase A (ARSA) activity was detected in a boy with delayed psychomotor development, coarse face and liver enlargement when he was aged 2. The case does not fit into the description of the Metachromatic leukodystrophy (MLD) proposed by Hagberg (1963) mainly because he did not deteriorate. ...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1984.tb01090.x

    authors: Danesino C,D'Azzo A,Aricò M,Podestà AF,Beluffi G,Bianchi E

    更新日期:1984-11-01 00:00:00

  • Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.

    abstract::RUNX2 (Runt-related transcription factor 2) is a master regulator of osteoblast differentiation, cartilage and bone development. Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is characterized by hypoplasia or aplasia of clavicles, delayed fontanelle closure, and dental anoma...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/cge.13610

    authors: Hordyjewska-Kowalczyk E,Sowińska-Seidler A,Olech EM,Socha M,Glazar R,Kruczek A,Latos-Bieleńska A,Tylzanowski P,Jamsheer A

    更新日期:2019-11-01 00:00:00

  • Partial trisomy and monosomy 8p due to inversion duplication.

    abstract::Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new methods for assessing chromosome rearrangements. In this paper we present four patients with additional chromosomal material on chromosome 8p who have been studie...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1994.tb04024.x

    authors: Engelen JJ,de Die-Smulders CE,Fryns JP,Hoovers JM,Albrechts JC,Loots WJ,Jacobs ME,Hamers AJ

    更新日期:1994-04-01 00:00:00

  • Frequency of the carrier state for X-linked chronic granulomatous disease among females with lupus erythematosus.

    abstract::Carriers for chronic granulomatous disease (CGD) and patients with lupus erythematosus (LE) share several characteristics: They are mostly females, they reduce nitroblue tetrazolium (NBT) poorly in their neutrophils, and, in some cases, they have similar skin lesions. We thus investigated 19 female LE patients for the...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1976.tb00003.x

    authors: Humbert JR,Fishman CB,Weston WL,DeArmey PA,Thoren CH

    更新日期:1976-07-01 00:00:00

  • Somatic segregation and Fanconi anemia.

    abstract::A case of Fanconi anemia with terminal acute leukemia is reported. Clones with chromosome abnormalities were observed in bone marrow cells. The patterns of marker chromosome distribution in these clones suggests the occurrence of a somatic segregation mechanism. ...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1977.tb01336.x

    authors: Berger R,Bussel A,Schenmetzler C

    更新日期:1977-06-01 00:00:00

  • Twenty-five novel mutations including duplications in the ATP7A gene.

    abstract::Twenty-five novel mutations including duplications in the ATP7A gene. Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations. MD is a severe condition leading to progressive neurological degeneration and death in early childh...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.2010.01461.x

    authors: Moizard MP,Ronce N,Blesson S,Bieth E,Burglen L,Mignot C,Mortemousque I,Marmin N,Dessay B,Danesino C,Feillet F,Castelnau P,Toutain A,Moraine C,Raynaud M

    更新日期:2011-03-01 00:00:00

  • Genetic regulatory pathways of split-hand/foot malformation.

    abstract::Split-hand/foot malformation (SHFM) is caused by mutations in TP63, DLX5, DLX6, FGF8, FGFR1, WNT10B, and BHLHA9. The clinical features of SHFM caused by mutations of these genes are not distinguishable. This implies that in normal situations these SHFM-associated genes share an underlying regulatory pathway that is in...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审

    doi:10.1111/cge.13434

    authors: Kantaputra PN,Carlson BM

    更新日期:2019-01-01 00:00:00

  • A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection.

    abstract::We report two children, the products of a consanguineous union, who died in infancy. Both children had severe microcephaly intracranial calcification, lissencephaly and polymicrogyria. ...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1986.tb00578.x

    authors: Burn J,Wickramasinghe HT,Harding B,Baraitser M

    更新日期:1986-08-01 00:00:00

  • A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings.

    abstract::Cross syndrome is a rare syndrome characterized by ocular and cutaneous hypopigmentation and neurological manifestations. A few reports have been published since 1967. In this report, we present a new case of Cross syndrome with additional findings such as urinary tract abnormality, bilateral inguinal hernia, focal in...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审

    doi:10.1111/j.1399-0004.1997.tb02432.x

    authors: Tezcan I,Demir E,Aşan E,Kale G,Müftüoğlu SF,Kotiloğlu E

    更新日期:1997-02-01 00:00:00

  • A new multiple malformation syndrome of Müllerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis.

    abstract::Multiple congenital malformations in a young girl with bilateral conductive hearing loss are described. Facial dysmorphic features include prominent supraorbital ridges, facial hypoplasia, facial asymmetry, downward-slanting palpebral fissures, high prominent nasal bridge with bifid nasal tip and a small lower jaw, an...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1997.tb02511.x

    authors: Kumar D,Masel JP

    更新日期:1997-07-01 00:00:00

  • The CF carrier status is not associated with a diminished self-concept or increased anxiety: results of psychometric testing after at least 1 year.

    abstract::To evaluate whether the CF carrier status has any lasting effect on anxiety and on self-concept at least 1 year after the disclosure of the test result, an in-depth interview and additional psychological tests were administered in a group of adults who participated in a previous study which suggested a slight stigmati...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1996.tb03779.x

    authors: Denayer L,Welkenhuysen M,Evers-Kiebooms G,Cassiman JJ,Van den Berghe H

    更新日期:1996-05-01 00:00:00

  • A genetic risk score is significantly associated with statin therapy response in the elderly population.

    abstract::The ability of statins to strongly reduce low-density lipoprotein cholesterol (LDL-C) varies interindividually and is partially influenced by genetic variants. Based on a comprehensive analysis of 23 single nucleotide polymorphisms (SNPs) known to be associated with pharmacokinetics and dynamics of statins, we develop...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/cge.12890

    authors: Ciuculete DM,Bandstein M,Benedict C,Waeber G,Vollenweider P,Lind L,Schiöth HB,Mwinyi J

    更新日期:2017-03-01 00:00:00

  • A fluorescent in situ hybridization analysis of the chromosome constitution of ejaculated sperm in a 47,XYY male.

    abstract::Two semen samples from a 47,XXY male were examined using chromosome-specific DNA probes and fluorescent in situ hybridization (FISH) to determine the distribution of sex chromosomes and an autosome (chromosome 17) in the sperm. A motile population of sperm was also prepared from one sample using the swim-up technique ...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1994.tb03996.x

    authors: Han TH,Ford JH,Flaherty SP,Webb GC,Matthews CD

    更新日期:1994-02-01 00:00:00

  • Transcobalamins in the etiology of neural tube defects.

    abstract::In a sample of 79 pregnant women at risk offspring with neural tube defects (NTDs) and 158 controls, significantly increased median values were found for apo-transcobalamins I and II in amniotic fluid in the group at risk, thus confirming previous results. The findings may reflect a genetic disposition to NTDs associa...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1991.tb03032.x

    authors: Magnus P,Magnus EM,Berg K

    更新日期:1991-04-01 00:00:00

  • Clinical, morphological and biochemical features in the familial articular hypermobility syndrome (FAHS): a family study.

    abstract::A female with clinical features of familial articular hypermobility syndrome (FAHS) and her family were studied. The subject showed generalized hypermobility, except for a painful shoulder which presented functional limitation with a diagnosis of painful shoulder syndrome. Biochemical studies demonstrated that collage...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1998.tb02656.x

    authors: García-Cruz D,Cano-Colín S,Sánchez-Corona J,Gallegos MP,Chimal-Monroy J,Díaz-de-León L

    更新日期:1998-02-01 00:00:00

  • The personal experience of juvenile Huntington's disease: an interpretative phenomenological analysis of parents' accounts of the primary features of a rare genetic condition.

    abstract::There has been a paucity of research into the psychosocial impact of juvenile Huntington's disease (JHD) on the child and the family. The study reported here is part of larger project that aimed to address this and investigate the social and health care needs of those affected by JHD. Ten semistructured interviews wit...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.2006.00624.x

    authors: Smith JA,Brewer HM,Eatough V,Stanley CA,Glendinning NW,Quarrell OW

    更新日期:2006-06-01 00:00:00

  • A rare disease and education: Neurofibromatosis type 1 decreases educational attainment.

    abstract::Rare heritable syndromes may affect educational attainment. Here, we study education in neurofibromatosis 1 (NF1) that is associated with multifaceted medical, social and cognitive consequences. Educational attainment in the Finnish population-based cohort of 1408 individuals with verified NF1 was compared with matche...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/cge.13907

    authors: Johansson E,Kallionpää RA,Böckerman P,Peltonen J,Peltonen S

    更新日期:2020-12-27 00:00:00

  • Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

    abstract::Whole-exome sequencing (WES) has transformed our ability to detect mutations causing rare diseases. FORGE (Finding Of Rare disease GEnes) and Care4Rare Canada are nation-wide projects focused on identifying disease genes using WES and translating this technology to patient care. Rare forms of epilepsy are well-suited ...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/cge.12464

    authors: Dyment DA,Tétreault M,Beaulieu CL,Hartley T,Ferreira P,Chardon JW,Marcadier J,Sawyer SL,Mosca SJ,Innes AM,Parboosingh JS,Bulman DE,Schwartzentruber J,Majewski J,Tarnopolsky M,Boycott KM,FORGE Canada Consortium.,Care4Rar

    更新日期:2015-07-01 00:00:00

  • Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.

    abstract::Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this study, we surveyed clinicians with particular expertise in the manage...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1034/j.1399-0004.2002.620512.x

    authors: Fraser J,Wraith JE,Delatycki MB

    更新日期:2002-11-01 00:00:00

  • Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

    abstract:BACKGROUND:Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#6130...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/cge.12985

    authors: Nambot S,Gavrilov D,Thevenon J,Bruel AL,Bainbridge M,Rio M,Goizet C,Rötig A,Jaeken J,Niu N,Xia F,Vital A,Houcinat N,Mochel F,Kuentz P,Lehalle D,Duffourd Y,Rivière JB,Thauvin-Robinet C,Beaudet AL,Faivre L

    更新日期:2017-08-01 00:00:00

  • Familial Turner syndrome.

    abstract::A 28-year-old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductiv...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1992.tb03666.x

    authors: Verschraegen-Spae MR,Depypere H,Speleman F,Dhondt M,De Paepe A

    更新日期:1992-04-01 00:00:00

  • Three successive prenatal diagnoses of 47,XY,+21.

    abstract::Within 3 working days in September, 1974, we made three prenatal diagnoses of 47,XY,+21 from three women of advanced maternal age. Two were 37 and 38 years old, respectively, and nulliparous. One was 42 years old and had four normal children. The possibility of cell contamination arose when the second diagnosis of tri...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1976.tb02270.x

    authors: Hsu LY,Godmilow L,Serotkiq AV,Hirschhorn K

    更新日期:1976-04-01 00:00:00

  • H-Y antigen in human intersexuality.

    abstract::The status of H-Y antigen was studied in 10 intersexual cases (three pure gonadal dysgenesis with XY genotype, three Klinefelter's syndrome, two true hermaphroditism with XX genotype, two male hermaphroditism) and in 18 normal adult subjects (nine males and nine females). In all these subjects, fluorescent staining an...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1978.tb02057.x

    authors: Ghosh SN,Shah PN,Gharpure HM,Athreya U

    更新日期:1978-07-01 00:00:00

  • Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

    abstract::Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the lite...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审

    doi:10.1111/cge.12848

    authors: Dworschak GC,Crétolle C,Hilger A,Engels H,Korsch E,Reutter H,Ludwig M

    更新日期:2017-05-01 00:00:00

  • Photoanthropometric study of craniofacial traits in individuals with Williams syndrome.

    abstract::A photoanthropometric method, which enables an objective description of facial structures, was used to better delineate the craniofacial characteristics of 29 individuals with Williams syndrome (WS; 18 males and 11 females) between the ages of 0 to 10 years, with an average age of 4.0 years. Facial parameters were mea...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1997.tb02495.x

    authors: Hovis CL,Butler MG

    更新日期:1997-06-01 00:00:00

  • Traversing the biological complexity in the hierarchy between genome and CAD endpoints in the population at large.

    abstract::An emerging challenge facing those who are concerned about the efficacy of public health programs is to understand how information from the DNA revolution might be used to improve our ability to predict the initiation, progression and severity of a common disease having a complex multifactorial etiology. In the course...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审

    doi:10.1111/j.1399-0004.1994.tb04196.x

    authors: Sing CF,Zerba KE,Reilly SL

    更新日期:1994-07-01 00:00:00

  • A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

    abstract::Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored ou...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/cge.13878

    authors: Delvallée C,Nicaise S,Antin M,Leuvrey AS,Nourisson E,Leitch CC,Kellaris G,Stoetzel C,Geoffroy V,Scheidecker S,Keren B,Depienne C,Klar J,Dahl N,Deleuze JF,Génin E,Redon R,Demurger F,Devriendt K,Mathieu-Dramard M,Po

    更新日期:2021-02-01 00:00:00

  • Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.

    abstract::Mutations in the Prophet of Pit-1 (Prop-1), a paired-like homeodomain transcription factor involved in the early embryonic pituitary development, have been reported as a cause of combined hormone deficiency (CPHD) involving growth hormone (GH), prolactin (PRL), thyroid-stimulating hormone (TSH), gonadotrophins and in ...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1034/j.1399-0004.2003.00106.x

    authors: Paracchini R,Giordano M,Corrias A,Mellone S,Matarazzo P,Bellone J,Momigliano-Richiardi P,Bona G

    更新日期:2003-08-01 00:00:00