scholarly journals A challenging chat

2015 ◽  
Vol 2 (1) ◽  
pp. 27
Author(s):  
Patricia Bell
Keyword(s):  
Obligate Carrier

Abstract At some stage or other, most haemophilia nurses will be faced with the pregnancy of an obligate carrier. As Trish Bell recounts, this can make for a difficult conversation and sleepless nights.

Investigation of the segregation of the fragile X mutation in daughters of obligate carrier women

1988 ◽  
Vol 30 (1-2) ◽  
pp. 633-639 ◽  
Author(s):  
S. L. Sherman ◽  
G. Turner ◽  
H. Robinson ◽  
S. Laing
Keyword(s):  
Fragile X ◽  
Obligate Carrier

Fragile Chromosomes

PEDIATRICS ◽  
1982 ◽  
Vol 70 (1) ◽  
pp. 153-153
Author(s):  
Jeff Murray
Keyword(s):  
Recent Article ◽  
Fragile Site ◽  
Fragile X ◽  
Marker Chromosome ◽  
Mentally Retarded ◽  
Carrier Status ◽  
Obligate Carrier ◽  
Normal Intelligence

The recent article by Hecht et al1 provided a comprehensive summary of this area of genetics that is of particular importance to pediatricians. I would like to add two recent findings of interest. First, Webb et a12 have reported a family with a male of normal intelligence and the fragile X marker chromosome. He was ascertained through his daughter who had a mentally retarded son with the associated fragile site and in addition the daughter showed the fragile X confirming her obligate carrier status.

scholarly journals Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

2021 ◽  
pp. 1-9
Author(s):  
André Mégarbané ◽  
Sayeeda Hana ◽  
Hala Mégarbané ◽  
Christel Castro ◽  
Sylvain Baulande ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Missense Mutation ◽  
Whole Exome Sequencing ◽  
Bone Fragility ◽  
Dentinogenesis Imperfecta ◽  
Review Of The Literature ◽  
Obligate Carrier ◽  
Whole Exome ◽  
Sequencing Studies

We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G&#x3e;A (p.Arg168His) missense mutation in <i>IRX5</i> in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed.

Spine and brain malformations in a patient obligate carrier of MTHFR with autism and mental retardation

2012 ◽  
Vol 114 (9) ◽  
pp. 1280-1282
Author(s):  
Vito Pavone ◽  
Andrea Domenico Praticò ◽  
Enrico Parano ◽  
Piero Pavone ◽  
Alberto Verrotti ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Obligate Carrier ◽  
Brain Malformations

X-Linked Gray Platelet Syndrome Due to a GATA1 Arg216Gln Mutation.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 5-5 ◽  
Author(s):  
Venée N. Tubman ◽  
Jason E. Levine ◽  
Dean R. Campagna ◽  
Mark D. Fleming ◽  
Ellis J. Neufeld
Keyword(s):  
X Chromosome ◽  
Blood Smear ◽  
Pcr Amplification ◽  
Peripheral Blood Smear ◽  
Genetic Mutation ◽  
Beta Thalassemia ◽  
Common Haplotype ◽  
Obligate Carrier ◽  
Gray Platelet Syndrome ◽  
Chain Synthesis

Abstract Gray Platelet Syndrome (GPS) is characterized by a variable, mild bleeding diathesis, associated with thrombocytopenia and large, agranular, functionally abnormal platelets. While the disorder has been well-described both biochemically and pathologically, to our knowledge, no genetic mutation has been associated with the disease. Most cases are sporadic, with a few sibships and apparent autosomal kindreds reported. In our investigation, the proband is a healthy 1 year-old female whose father and uncle had recently been diagnosed with GPS. The child had a platelet count of 382 x103 platelets/μl, comprised of a dimorphic population of normal and large, agranular forms. Her CBC and peripheral blood smear were otherwise unremarkable. We subsequently analyzed four generations of this family. In addition to the proband’s father and uncle, several other members had known bleeding tendencies. The symptomatic individuals were invariably males, consistent with a sex-linked pattern of inheritance. Several symptomatic and asymptomatic family members were evaluated by CBC and blood smear. Large, agranular platelets were found in symptomatic males, while obligate carrier females exhibited both normal and abnormal forms. Using a set of fifteen microsatellite markers spanning the X chromosome, a common haplotype was identified in all affected men, their mothers, and their daughters. Aided by the published sequence of the X chromosome, we examined this region for candidate genes. Although the common haplotype between markers GATA144D04 and DXS6797 (Xp11.3-Xq22.3) contains hundreds of genes, only two, GATA1 and WAS, have known associations with thrombocytopenia. PCR amplification and sequencing of a 3′ segment of the GATA-1 promoter and the five coding exons of the GATA-1 gene revealed an G759A missense mutation resulting in an Arg216Gln substitution in exon 4 (NCBI RefSeq: NM_002049) that segregated with the phenotype and was present in all obligate carrier females. This mutation has been previously associated with X-linked thrombocytopenia and beta-thalassemia (XLTT), a syndrome characterized by splenomegaly, thrombocytopenia, and imbalanced globin chain synthesis (Balduini et al, Thromb Haemost. 2004; 91:129). Comparison of the ultrastructural characteristics of the platelets in both disorders and a review of literature on both diseases suggests that XLTT, and the associated mutation in GATA1, could represent one genetic origin for GPS. As carrier females generally display a less severe phenotype than affected males, without thrombocytopenia and with subtle dimorphism on smears, it is possible that this mutation may account for some previously reported “sporadic” cases of GPS.

Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome

2000 ◽  
Vol 98 (1) ◽  
pp. 92-100 ◽  
Author(s):  
S. Forrester ◽  
M.J. Kovach ◽  
N.M. Reynolds ◽  
R. Urban ◽  
V. Kimonis
Keyword(s):  
Obligate Carrier

scholarly journals Living Kidney Donation in a Type 1 Dent’s Disease Patient from His Mother

2019 ◽  
Vol 44 (5) ◽  
pp. 1306-1312 ◽  
Author(s):  
Giovanni Gambaro ◽  
Alessandro Naticchia ◽  
Pietro Manuel Ferraro ◽  
Gionata Spagnoletti ◽  
Jacopo Romagnoli ◽  
...  
Keyword(s):  
Early Adulthood ◽  
Disease Patient ◽  
Deceased Donor ◽  
Kidney Donation ◽  
Obligate Carrier ◽  
Dent’S Disease ◽  
Dent's Disease ◽  
Deceased Donor Kidney Transplant ◽  
Stage Renal Disease

Introduction: Dent’s disease is a rare X-linked recessive disorder that manifests in childhood or early adulthood and can lead to end-stage renal disease (ESRD). It occurs in males, who are hemizygous. In patients who develop ESRD, a deceased donor kidney transplant cures the disease. Females are obligate carriers of the mutated gene, and some show a mild Dent’s disease phenotype. There may be reason for concern when considering a female obligate carrier (i.e., the mother) for kidney donation because of the risk of kidney function deterioration. Case Presentation: We describe the first successful kidney transplantation involving a patient with type 1 Dent’s disease and ESRD given a kidney by an obligate carrier of the gene mutation, his mother. Conclusions: After careful assessment of the female obligate carriers, intrafamilial kidney donation in Dent’s disease type 1 is feasible. No deteriorating renal function in the donor was observed.

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