Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34)

Pfeiffer, R. A.; Ott, R.; Gilgenkrantz, Simone; P, Alexandre

doi:10.1007/bf00304557

Cited by 91 publications

(67 citation statements)

References 7 publications

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“…FX deficiency, with a prevalence of 1:1,000,000 in the general population [2], is characterized by a prolongation of both the PT and the APTT. Both the FX and FVII genes map on the long arm of chromosome 13 [3], and until now, the few reports of combined deficiency of FVII and FX were due only to gross abnormalities of this chromosome [4,5], not to the co-segregation of two separate gene defects.…”

Section: Introductionmentioning

confidence: 99%

A rare inherited coagulation disorder: Combined homozygous factor VII and factor X deficiency

et al. 2004

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The combined presence in the homozygous state of more than one recessively transmitted coagulation defect may rarely occur in countries with a high rate of consanguinity. In an Iranian family consisting of two parents (second cousins) and two affected siblings, initial phenotypic analysis led to a diagnosis of mild FX deficiency (10-19% FX activity, 42-54% FX:Ag), and genotyping revealed a new homozygous missense mutation in the corresponding gene (Ser3Cys). As both of the sibs had a severe bleeding history that was not compatible with mild deficiency of FX, further phenotypic analysis revealed the additional presence of severe FVII deficiency (<1% FVII activity; 63-111% FVII:Ag) associated with the homozygous missense gene mutation Cys310Phe. In this kindred, lack of identification of the double coagulation defect might have led not only to incomplete understanding of the clinical phenotype but also to an incorrect prenatal diagnosis.

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Section: Introductionmentioning

confidence: 99%

A rare inherited coagulation disorder: Combined homozygous factor VII and factor X deficiency

et al. 2004

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“…Our study has also showed the normal F13A level in the patient with monosomy for 6p2307 --, pter. Although the two studies failed to substantiate the localization of FI3A in the distal 6p region by deletion mapping, in view of the genetic distance between the loci for FI3A and HLA (its SRO=6p21.3) in males whose chiasma map distance is reported to be 55 cM of length (Morton et al, 1982), we would like to assume that the loci encoding F12 and F13A may form a coagulation factor gene cluster in the region 6p2300~ p2307 as do the loci encoding F7 and FI0 in the 13q34 region (Pfeiffer et al, 1982). The confirmation of this hypothesis will have to await gene dosage studies in further cases with partial monosomy 6p or in situ hybridization studies using a complementary DNA for FI2 Qr FI3A.…”

Section: Linkage Mapmentioning

confidence: 97%

Gene dosage effects for coagulation factors XII (F12) and XIII subunit a (F13A) in a case with partial monosomy 6p resulting from a maternal pericentric inversion of chromosome 6

et al. 1987

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SummaryGenes encoding blood coagulation factors XII (F12) and XII[ subunit A (F13A) have been shown to be localized in the distal 6p region. We studied gene dosage effects for F12 and F13A in a female case with a duplication-deficiency (partial monosomy for 6p2307---, pter and trisomy for 6q25.1 ~ qter) due to a maternal inversion of chromosome 6. Plasma levels of factor XII were reduced in the patient (46~) and her mother (42~), while that in her father (56~) was within the normal range. On the other hand, plasma levels of factor XIII were normal in the three individuals and the phenotype of factor XIII subunit A was type 1 in all the three. The low factor XII values in the patient and the mother can be best explained by a duplex gene dosage for FI2 but with the involvement of a variant gene which results in FI2 with a low activity and exists in the two individuals. These results suggested that the loci encoding FI2 and F13A can be excluded from the region 6p2307-* pter.

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“…To the Editor: The mapping of genes encoding blood coagulation factors VII (F7) and X (F10) to the 13q34 segment was first suggested by Pfeiffer et al (1982) on the basis of observations of reduced plasma FVII and FX levels in two patient with a deletion involving the 13q34 segment. Subsequent investigations on patients with various abnormalities of chromosome 13 have confirmed that monosomy for the 13q34 segment produced a 50~ decrement (de Grouchy et al, 1984;Gilgenkrantz et al, 1986;Fukushima et al, 1987) while trisomy for the same segment led to a 50~ increment (Gilgenkrantz et al, 1986) in plasma FVII and FX levels.…”

Section: Mapping Of Genes Encoding Coagulation Factors VIImentioning

confidence: 99%

Mapping of genes encoding coagulation factors VII and X to the distal portion of the 13q34 by gene dose study in a patient with r(13)

Kasai¹,

Narahara

Namba

et al. 1989

Jap J Human Genet

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To the Editor:The mapping of genes encoding blood coagulation factors VII (F7) and X (F10) to the 13q34 segment was first suggested by Pfeiffer et al. (1982) on the basis of observations of reduced plasma FVII and FX levels in two patient with a deletion involving the 13q34 segment. Subsequent investigations on patients with various abnormalities of chromosome 13 have confirmed that monosomy for the 13q34 segment produced a 50~ decrement (de Grouchy et al., 1984;Gilgenkrantz et al., 1986;Fukushima et al., 1987) while trisomy for the same segment led to a 50~ increment (Gilgenkrantz et al., 1986) in plasma FVII and FX levels. In addition, Scambler and Williamson (1985) have demonstrated on Southern blot analysis of DNA from patients with monosomy for 13q34 using a cloned human F10 gene that the low ,expression of FX resulted from loss of one copy of the F10 structural genes. Although the loci for F7 and F10 are assumed to form a coagulation gene cluster in this region, localization remains to be detailed at the subband level. In this letter, we describe results of a gene dose study for F7 and F10 in a 3 year 9 month-old female patient with a ring chromosome 13 in which the breakpoint was located at the distal portion of the 13q34 band.The patient was born at term to a 30-year-old mother and an unrelated 32-year-old father. The pregnancy was uneventful, but the delivery was complicated by bleeding due to placenta praevia. The birth weight was 2,264 g. Because of neonatal asphyxia, she was cared for in an incubator for 2 days. Her psychomotor development was slow: head control at 4 months, sitting without support at 1 year 10 months and walking alone at 2 years 7 months. At the age of 3 years 9 months, her body weight was 12 kg (-1.7 S.D.), the height 93.0 cm (-1.1 S.D.) and the head circumference 43.5 cm (-3.6 S.D.). She was found to have microcephaly, long and narrow palpebral fissures, prominent nasal bridge, protruding maxilla, thin lips, anterior displacement of the anus, proximal implantation of the thumbs and bilateral short fifth fingers. Her 2nd and 4th toes overlapped onto the 3rd toes bilaterally. Examinations of the chest and abdomen showed no abnormality. There was no antecedent history of bleeding disorder, and liver function tests yielded normal results.Conventional cytogenetic study of peripheral blood lymphocytes from the

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Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34)

Cited by 91 publications

References 7 publications

A rare inherited coagulation disorder: Combined homozygous factor VII and factor X deficiency

A rare inherited coagulation disorder: Combined homozygous factor VII and factor X deficiency

Gene dosage effects for coagulation factors XII (F12) and XIII subunit a (F13A) in a case with partial monosomy 6p resulting from a maternal pericentric inversion of chromosome 6

Mapping of genes encoding coagulation factors VII and X to the distal portion of the 13q34 by gene dose study in a patient with r(13)

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