An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3.
Am J Med Genet A
; 176(12): 2858-2861, 2018 12.
Article
em En
| MEDLINE
| ID: mdl-30450763
ABSTRACT
Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is a genetically heterogeneous lymphatic dysplasia with characteristic of facial dysmorphism, neurocognitive impairments, and abnormalities of the pericardium, intestinal tract, and extremities. It is an autosomal recessive condition caused by biallelic mutations in CCBE1 (collagen- and calcium-binding epidermal growth factor domain-containing protein 1) (HKLLS1; OMIM 235510) or FAT4 (HKLLS2; OMIM 616006). CCBE1 acts via ADAMTS3 (a disintegrin and metalloprotease with thrombospondin motifs-3 protease) to enhance vascular endothelial growth factor C signaling. There is report of one family supporting mutations in ADAMTS3 as causative for the phenotype labeled as HKLLS3. Here, we report an additional case of HKLLS that appears to be associated with homozygous nonsense mutation of ADAMTS3.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Pró-Colágeno N-Endopeptidase
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Anormalidades Craniofaciais
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Predisposição Genética para Doença
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Estudos de Associação Genética
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Proteínas ADAMTS
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Mutação com Perda de Função
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Linfangiectasia Intestinal
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Linfedema
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article