Rosselli–Gulienetti syndrome

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Rosselli–Gulienetti syndrome
Other namesZlotogora–Ogur syndrome
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner[1]

Rosselli–Gulienetti syndrome,[2] also known as Zlotogora–Ogur syndrome[3] and Bowen–Armstrong syndrome,[4] is a type of congenital ectodermal dysplasia syndrome. The syndrome is relatively rare[5] and has only been described in a few cases.

Signs and symptoms[]

There is a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include , absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance,[5] and caused by a mutation affecting the TP63 gene.[6] It has been suggested that this syndrome, AEC syndrome and Rapp–Hodgkin syndrome may be variations of the same disease.[7]

Cause[]

It is caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Although the mechanism underlying the physiopathology of this syndrome is still unknown, it has been proposed that nectin-1 is a cell-cell adhesion molecule that is preferentially expressed in keratinocytes and that mutations in PVRL1 may abrogate NAP (nectin, afadin, ponsin)-dependent cell-cell adhesion.It is thought that the genetic transmission is autosomal recessive gene transmission.[8]

Diagnosis[]

By molecular Genetics.

In patients with the Margarita type of ectodermal dysplasia, Suzuki et al. (2000) identified a homozygous nonsense mutation in the PVRL1 (600644.0001). The authors suggested that the high frequency of the disorder on Margarita Island may have resulted from resistance of heterozygotes to infection by alpha-herpesviruses. In 2 families from Israel and Brazil described as having Zlotogora-Ogur syndrome, Suzuki et al. (2000) also found homozygous mutations in the PVRL1 gene (600644.0002-600644.0003).[9]

Treatment[]

There is no specific treatment or cure for individuals affected with this type of syndrome, though some of the abnormal physical features may be surgically correctable.[4]

References[]

  1. ^ "OMIM Entry - % 225000 - ROSSELLI-GULIENETTI SYNDROME". omim.org. Retrieved 7 August 2017.
  2. ^ Rosselli, D.; Gulienetti, R. (1961). "Ectodermal dysplasia". British Journal of Plastic Surgery. 14: 190–204. doi:10.1016/S0007-1226(61)80036-2. PMID 14494246.
  3. ^ ORPHANET - About rare diseases - About orphan drugs
  4. ^ a b Bowen-Armstrong Syndrome
  5. ^ a b Bowen, P; Armstrong HB (1976). "Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs". Clin. Genet. 9 (1): 35–42. doi:10.1111/j.1399-0004.1976.tb01547.x. PMID 174848.
  6. ^ Dianzani I, Garelli E, Gustavsson P, et al. (2003). "Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene". J. Med. Genet. 40 (12): 133e–133. doi:10.1136/jmg.40.12.e133. PMC 1735338. PMID 14684701.
  7. ^ Zenteno JC, Venegas C, Kofman-Alfaro S (1999). "Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease". Pediatr Dermatol. 16 (2): 103–107. doi:10.1046/j.1525-1470.1999.99009.x. PMID 10337671.

External links[]

Classification
External resources
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