Abstract:
:Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these children represents the Goldberg-Shprintzen syndrome (OMIM 235730). Mutation scanning of genes potentially involved in Hirschsprung disease, RET, GDNF, EDN3, and EDNRB, showed a sequence variant, Ser305Asn, in exon 4 of the EDNRB gene in the index patient of this family. The Ser305Asn substitution present in two of the four patients and four healthy relatives and absent in one of the remaining two patients illustrates the difficulties in interpreting the presence of mutations in families with Hirschsprung disease. It is unlikely that the EDNRB variant contributes to the phenotype. This consanguineous family might be useful for the identification of a Goldberg-Shprintzen locus.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Brooks AS,Breuning MH,Osinga J,vd Smagt JJ,Catsman CE,Buys CH,Meijers C,Hofstra RMkeywords:
subject
Has Abstractpub_date
1999-06-01 00:00:00pages
485-9issue
6eissn
0022-2593issn
1468-6244journal_volume
36pub_type
杂志文章abstract:BACKGROUND:Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control th...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-103956
更新日期:2017-01-01 00:00:00
abstract::Four cases of lethal short rib-polydactyly syndrome (SRPS) from three non-consanguineous families are described. Radiological features were similar in all four cases and were most consistent with type III SRPS (Verma-Naumoff syndrome), but many differences in external and systemic abnormalities were noted. The conside...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.22.1.46
更新日期:1985-02-01 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...
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pub_type: 杂志文章
doi:10.1136/jmg.39.2.113
更新日期:2002-02-01 00:00:00
abstract:BACKGROUND:A Y chromosomal role in prostate cancer has previously been suggested by both cytogenetic findings and patterns of Y chromosomal gene expression. We took advantage of the well established and stable phylogeny of the non-recombining segment of the Y chromosome to investigate the association between Y chromoso...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmg.40.11.815
更新日期:2003-11-01 00:00:00
abstract::We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the pati...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmg.34.10.798
更新日期:1997-10-01 00:00:00
abstract::Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with o...
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pub_type: 杂志文章
doi:10.1136/jmg.30.5.369
更新日期:1993-05-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106474
更新日期:2020-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-105113
更新日期:2018-10-01 00:00:00
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pub_type: 杂志文章
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更新日期:1987-09-01 00:00:00
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更新日期:1987-02-01 00:00:00
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pub_type: 杂志文章
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更新日期:1976-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.4.271
更新日期:1981-08-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1989-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.044859
更新日期:2007-01-01 00:00:00
abstract::Usher syndrome type I is an autosomal recessive disease characterised by congenital sensorineural deafness, involvement of the vestibular system, and progressive visual loss owing to retinitis pigmentosa. Here we report the association of this disease with bronchiectasis, chronic sinusitis, and reduced nasal mucocilia...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.3.253
更新日期:1993-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmg.37.10.741
更新日期:2000-10-01 00:00:00
abstract::Linkage between the locus for cystic fibrosis and other genetic markers was explored in 40 families from Birmingham and 20 from Manchester. No strong evidence was found for linkage with any of the markers examined. There was evidence against close linkage with ABO, HLA, and Rh. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.6.417
更新日期:1976-12-01 00:00:00
abstract:BACKGROUND:Early infantile epileptic encephalopathies usually manifest as severely impaired cognitive and motor development and often result in a devastating permanent global developmental delay and intellectual disability. A large set of genes has been implicated in the aetiology of this heterogeneous group of disorde...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101223
更新日期:2013-02-01 00:00:00
abstract::A rapid PCR based assay was used to ascertain the presence of maternal cell contamination (MCC) in amniotic fluid cell cultures and to exclude MCC in cases where cytogenetic analysis was possible only from one primary cell culture. Six 6-carboxyfluorescein (FAM) and three 6-carboxyfluorescein hexachloride (HEX) labell...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.1.61
更新日期:1995-01-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 信件
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更新日期:2007-01-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-100990
更新日期:2012-09-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.6.466
更新日期:1977-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.6.375
更新日期:1987-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-107042
更新日期:2020-09-08 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.1.13
更新日期:1984-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.12.960
更新日期:1994-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2011-100542
更新日期:2012-03-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1979-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106470
更新日期:2020-10-01 00:00:00
abstract::The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.3.148
更新日期:1987-03-01 00:00:00