Carrier detection in Duchenne muscular dystrophy.

Fitzsimmons, James S.; McLachlan, J I; Reeves, W G; Marriott, David; Woolfson, A. M. J.; Mayhew, J.

doi:10.1136/jmg.17.3.165

Cited by 8 publications

(4 citation statements)

References 11 publications

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“…The frequency of new mutants among patients with DMD ranges from 16.4% to 39.5% in Caucasians and Asians (Bucher, Ionasescu, & Hanson, 1980; Kong et al., 2019; Patiño, Narbona, & García‐Delgado, 1995), and is up to 62.2% in Latin Americans (Alcántara et al., 1999). In four of our carrier mothers, CK levels were above the normal range values, which means that the assay of CK activity may be a reliable and cost‐effective criterion to determine carrier status (Fitzsimmons et al., 1980; Hutton & Thompson, 1976), especially in sub‐Saharan African settings where molecular diagnosis facilities are not always available. The determination of carrier status is critical for the genetic counseling (Lane, Robinow, & Roses, 1983).…”

Section: Discussionmentioning

confidence: 95%

DMD‐related muscular dystrophy in Cameroon: Clinical and genetic profiles

Wonkam‐Tingang

Nguefack

Esterhuizen

et al. 2020

Molec Gen & Gen Med

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Background Most of the previous studies on Duchenne Muscular Dystrophy (DMD) were conducted in Caucasian, Asian, and Arab populations. Therefore, little is known about the features of this disease in Africans. In this study, we aimed to determine the clinical characteristics of DMD, and the common mutations associated with this condition in a group of Cameroonian patients. Methods We recruited DMD patients and performed a general physical examination on each of them. Multiplex ligand‐dependant probe amplification was carried out to investigate exon deletions and duplications in the DMD gene (OMIM: 300377) of patients and their mothers. Results A total of 17 male patients from 14 families were recruited, aged 14 ± 5.1 (8–23) years. The mean age at onset of symptoms was 4.6 ± 1.5 years, and the mean age at diagnosis was 12.1 ± 5.2 years. Proximal muscle weakness was noted in all patients and calf hypertrophy in the large majority of them (88.2%; 15/17). Flexion contractures were particularly frequent on the ankle (85.7%; 12/14). Wasting of shoulder girdle and thigh muscles was present in 50% (6/12) and 46.2% (6/13) of patients, respectively. No patient presented with hearing impairment. Deletions in DMD gene (OMIM: 300377) occurred in 45.5% of patients (5/11), while duplications were observed in 27.3% (3/11). Both mutation types were clustered between exons 45 and 50, and the proportion of de novo mutation was estimated at 18.2% (2/11). Conclusion Despite the first symptoms of DMD occurring in infancy, the diagnosis is frequently made later in adolescence, indicating an underestimation of the number of cases of DMD in Cameroon. Future screening of deletions and duplications in patients from Cameroon should focus on the distal part of the gene.

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Section: Discussionmentioning

confidence: 95%

DMD‐related muscular dystrophy in Cameroon: Clinical and genetic profiles

Wonkam‐Tingang

Nguefack

Esterhuizen

et al. 2020

Molec Gen & Gen Med

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“…Adornato et a1 [ 19781 first reported that some carriers of DMD had an elevated serum myoglobin (Mb) concentration and suggested that serum Mb and CK measurements in combination might identify a higher proportion of carriers than either CK or Mb alone. Subsequent surveys have confirmed that serum Mb is elevated in DMD carriers and also in carriers of Becker muscular dystrophy [Adornato et al, 1978;Ando et al, 1980;Fitzsimmons et al, 1980;Kagen et al, 1980;Konagaya et al, 1982;Miyoshi et al, 1978;Nicholson, 1981 ;Norregaard-Hansen and Hein-Sorensen, 1982;Norregaard-Hansen et al, 19781. It is not yet clear whether CK or Mb testing is more effective in DMD carrier detection, or whether there is any advantage in using the two tests in combination.…”

Section: Introductionmentioning

confidence: 80%

Serum myoglobin in Duchenne muscular dystrophy carrier detection: A comparison with creatine kinase and hemopexin using logistic discrimination

et al. 1984

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Logistic discrimination was used to assess the effectiveness of serum myoglobin (Mb), creatine kinase (CK), and hemopexin (H) measurements in identifying Duchenne muscular dystrophy (DMD) carriers. Subjects included 36 obligate carriers, 46 age-matched control women, 30 mothers of isolated cases, and 14 DMD patients. The percentages of obligate carriers with logistic carrier probabilities exceeding the upper normal 95th centile (or 97.5th centile) were: CK alone, 63% (50%); Mb alone, 65% (62%); CK and Mb, 66% (62%); CK and H, 78% (65%); CK H and Mb, 72% (65%). In this study, Mb identified more carriers than CK at the 97.5% level, but there was no advantage in using Mb measurements with CK. CK provided slightly better overall separation of the control and carrier groups than Mb. CK, Mb, and H in combination provided significantly better separation than CK and H, or CK alone.

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“…The full-field ERG of patients with DMD showed alterations in scotopic and photopic responses. 6,15,16,18,19,[22][23][24][25]43,[45][46][47][48][49][50] Indications of impairment in the visual pathways were also observed using visual evoked potential (VEP) techniques. Benoff et al 47 investigated the contrast sensitivity mediated by magno-and parvocellular pathways isolating the responses of the "ON" and "OFF" subsystems of the visual pathway.…”

Section: Discussionmentioning

confidence: 99%

Red-Green Color Vision Impairment in Duchenne Muscular Dystrophy

Costa¹,

Oliveira²,

Feitosa-Santana³

et al. 2007

The American Journal of Human Genetics

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The present study evaluated the color vision of 44 patients with Duchenne muscular dystrophy (DMD) (mean age 14.8 years; SD 4.9) who were submitted to a battery of four different color tests: Cambridge Colour Test (CCT), Neitz Anomaloscope, Ishihara, and American Optical Hardy-Rand-Rittler (AO H-R-R). Patients were divided into two groups according to the region of deletion in the dystrophin gene: upstream of exon 30 (n=12) and downstream of exon 30 (n=32). The control group was composed of 70 age-matched healthy male subjects with no ophthalmological complaints. Of the patients with DMD, 47% (21/44) had a red-green color vision defect in the CCT, confirmed by the Neitz Anomaloscope with statistical agreement (P<.001). The Ishihara and the AO H-R-R had a lower capacity to detect color defects--5% and 7%, respectively, with no statistical similarity between the results of these two tests nor between CCT and Anomaloscope results (P>.05). Of the patients with deletion downstream of exon 30, 66% had a red-green color defect. No color defect was found in the patients with deletion upstream of exon 30. A negative correlation between the color thresholds and age was found for the controls and patients with DMD, suggesting a nonprogressive color defect. The percentage (66%) of patients with a red-green defect was significantly higher than the expected <10% for the normal male population (P<.001). In contrast, patients with DMD with deletion upstream of exon 30 had normal color vision. This color defect might be partially explained by a retina impairment related to dystrophin isoform Dp260.

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Carrier detection in Duchenne muscular dystrophy.

Cited by 8 publications

References 11 publications

DMD‐related muscular dystrophy in Cameroon: Clinical and genetic profiles

DMD‐related muscular dystrophy in Cameroon: Clinical and genetic profiles

Serum myoglobin in Duchenne muscular dystrophy carrier detection: A comparison with creatine kinase and hemopexin using logistic discrimination

Red-Green Color Vision Impairment in Duchenne Muscular Dystrophy

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