092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
نویسندگان
چکیده
منابع مشابه
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
Ectodermal dysplasias form a large disease family with more than 200 members. The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermal dysplasia-syndactyly syndrome (EDSS). We used a homozygosity mapping approach to map the EDSS locus to 1q23 in a consanguineous Algerian family. By candidate gene analysis, we identified a homozygous mut...
متن کاملConnexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
Clouston syndrome or hidrotic ectodermal dysplasia (HED) is a rare dominant genodermatosis characterized by palmoplantar hyperkeratosis, generalized alopecia and nail defects. The disease is caused by mutations in the human GJB6 gene which encodes the gap junction protein connexin30 (Cx30). To gain insight into the molecular mechanisms underlying HED, we have analyzed the consequences of two of...
متن کاملDistinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
BACKGROUND EEM syndrome is the rare association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. METHODS We here demonstrate through molecular analysis that EEM is caused by distinct homozygous CDH3 mutations in two previously published families. RESULTS In family 1, a missense mutation (c.965A-->T) causes a change of amino acid 322 from asparagine to isoleucine; this amino aci...
متن کاملAssociation of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey.
Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed.
متن کاملTwo sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?
We report two sibs of Turkish descent with multiple congenital anomalies including severe microcephaly, hygroma colli, cystic renal dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In addition, the second sib presented with bilateral fusion of the eyelids, a bicornuate uterus, and clitoromegaly. The parents are first cousins, which suggests autosomal recessive inheritance. In reviewi...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2019
ISSN: 0022-202X
DOI: 10.1016/j.jid.2019.07.096