Genetic Causes of Lymphedema

Schlögel, Matthieu J.; Brouillard, Pascal; Boon, Laurence M.; Vikkula, Miikka

doi:10.1007/978-3-319-14493-1_3

Cited by 2 publications

(2 citation statements)

References 29 publications

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“…No KIF11 mutation-negative familial cases were identified; however, about half of the sporadic cases were KIF11 mutation-negative. These may be explained by several hypotheses: (1) Deletions or deep-intronic mutations in KIF11 , which were not assessed in the study; (2) Somatic/mosaic KIF11 mutations that are not detectable in the blood by Sanger sequencing: mosaicism as a cause of MCLMR can be investigated by sequencing tissue and blood-DNA using targeted deep sequencing; (3) Existence of a mimicking disorder: many different genes can cause microcephaly, including those implicated in autosomal recessive primary microcephaly and syndromic microcephaly [ 25 ], or primary lymphedema [ 26 ]. The presence of motor delay in patients XVIII-10 and XIII-10 may suggest Cohen syndrome (OMIM 216550) [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Schlögel

Mendola

Fastré

et al. 2015

Orphanet J Rare Dis

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BackgroundMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5.MethodsWe tested 23 unreported MCLMR index patients for KIF11. We also reviewed the clinical phenotypes of all our patients as well as of those described in previously published studies.ResultsWe identified 14 mutations, 12 of which are novel. We detected mutations in 12 affected individuals, from 6 out of 6 familial cases, and in 8 out of 17 sporadic patients. Phenotypic evaluation of patients (our 26 + 61 earlier published = 87) revealed microcephaly in 91%, eye anomalies in 72%, intellectual disability in 67% and lymphedema in 47% of the patients. Unaffected carriers were rare (4 out of 87: 5%). Family history is not a requisite for diagnosis; 31% (16 out of 52) were de novo cases.ConclusionsAll inherited cases, and 50% of sporadic cases of MCLMR are due to germline KIF11 mutations. It is possible that mosaic KIF11 mutations cause the remainder of sporadic cases, which the methods employed here were not designed to detect. On the other hand, some of them might have another mimicking disorder and genetic defect, as microcephaly is highly heterogeneous. In aggregate, KIF11 mutations likely cause the majority, if not all, of MCLMR.

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Section: Discussionmentioning

confidence: 99%

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Schlögel

Mendola

Fastré

et al. 2015

Orphanet J Rare Dis

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“…Within the context of cancer-related lymphedema, patients have frequent interactions with the healthcare system, emphasizing the many points of intervention that already exist in the patient journey for lymphatic education and diagnosis 16 , 17 . This concept becomes increasingly difficult with non-cancer-related lymphedema patients due to the variability in presentation, time of disease onset, and frequency of patient interactions with the medical system 18 , 19 . Hence, global education of both generalists and subspecialists on lymphatic diseases is pertinent to improve screening, diagnosis, and treatment of these patients.…”

Section: Discussionmentioning

confidence: 99%

The lymphedema patient experience within the healthcare system: a cross-sectional epidemiologic assessment

Bowman,

Rockson

2024

Sci Rep

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Lymphedema is a progressive lymphatic disease that potentiates physical and psychosocial distress. Despite its impact, patients reportedly encounter lymphatic ignorance throughout the healthcare system. This cross-sectional study aims to summarize clinical characteristics and interactions of lymphedema patients within the healthcare system. Two lymphedema patient cohorts were included: The Global Registry Analysis Cohort included lymphedema patients who contributed to an international digital lymphatic registry and the Interactions Cohort included patients who initiated a questionnaire about interactions with the medical system. The global registry was used to obtain demographic and clinical characteristics from affiliated lymphedema patients. A 23-item online questionnaire on healthcare experiences and satisfaction with lymphatic healthcare was then distributed to the Interactions Cohort. Complete responses were obtained from 2474 participants. Participants were a mean age of 57.5 ± 16.1 years and 51.4% had a cancer history. Participants reported substantial delays in diagnosis and treatment. Cancer-related and non-cancer-related lymphedema patients reported similar levels of perceived physician disinterest in their lymphedema; however, non-cancer-related lymphedema patients reported more care dissatisfaction. Ultimately, patients continue to face delays in lymphedema diagnosis and treatment. We developed an evidence-based model highlighting areas of reform needed to improve lymphatic education and healthcare.

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Genetic Causes of Lymphedema

Cited by 2 publications

References 29 publications

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

The lymphedema patient experience within the healthcare system: a cross-sectional epidemiologic assessment

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