Goltz syndrome and PORCN mosaicism
Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. Goltz syndrome is an X‐linked disorde...
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| Published in: | International journal of dermatology Vol. 53; no. 12; pp. 1481 - 1484 |
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| Main Authors: | , , , , |
| Format: | Journal Article |
| Language: | English |
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Blackwell Publishing Ltd
01-12-2014
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| Abstract | Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. Goltz syndrome is an X‐linked disorder due to mutations in PORCN, with a predominance of females affected. Germline mutations in PORCN are thought to result in embryonically lethality in males. We present a boy with a phenotype consistent with Goltz syndrome with low‐level mosaicism for a novel mutation in PORCN from peripheral blood (c.956dupA; p.Asn320GlufsX99). |
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| AbstractList | Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. Goltz syndrome is an X-linked disorder due to mutations in PORCN, with a predominance of females affected. Germline mutations in PORCN are thought to result in embryonically lethality in males. We present a boy with a phenotype consistent with Goltz syndrome with low-level mosaicism for a novel mutation in PORCN from peripheral blood (c.956dupA; p.Asn320GlufsX99). G oltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. G oltz syndrome is an X‐linked disorder due to mutations in PORCN , with a predominance of females affected. Germline mutations in PORCN are thought to result in embryonically lethality in males. We present a boy with a phenotype consistent with G oltz syndrome with low‐level mosaicism for a novel mutation in PORCN from peripheral blood (c.956dup A ; p.Asn320 G lufs X 99). Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. Goltz syndrome is an X-linked disorder due to mutations in PORCN , with a predominance of females affected. Germline mutations in PORCN are thought to result in embryonically lethality in males. We present a boy with a phenotype consistent with Goltz syndrome with low level mosaicism for a novel mutation in PORCN from peripheral blood (c.956dupA; p.Asn320GlufsX99). |
| Author | Dent, Karin Chirpich, Meghan Hanson, Heather Stevenson, David A. Contreras, Yvonne |
| AuthorAffiliation | 1 Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA 2 Intermountain Healthcare, Salt Lake City, Utah |
| AuthorAffiliation_xml | – name: 2 Intermountain Healthcare, Salt Lake City, Utah – name: 1 Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA |
| Author_xml | – sequence: 1 givenname: David A. surname: Stevenson fullname: Stevenson, David A. email: David A. Stevenson, Division of Medical GeneticsUniversity of Utah2C412 SOMSalt Lake City, UT 84132, USA, david.stevenson@hsc.utah.edu organization: Department of Pediatrics, University of Utah, UT, Salt Lake City, USA – sequence: 2 givenname: Meghan surname: Chirpich fullname: Chirpich, Meghan organization: Department of Pediatrics, University of Utah, Salt Lake City, UT, USA – sequence: 3 givenname: Yvonne surname: Contreras fullname: Contreras, Yvonne organization: Intermountain Healthcare, UT, Salt Lake City, USA – sequence: 4 givenname: Heather surname: Hanson fullname: Hanson, Heather organization: Department of Pediatrics, University of Utah, UT, Salt Lake City, USA – sequence: 5 givenname: Karin surname: Dent fullname: Dent, Karin organization: Department of Pediatrics, University of Utah, UT, Salt Lake City, USA |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/25040319$$D View this record in MEDLINE/PubMed |
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| CitedBy_id | crossref_primary_10_1002_ccr3_1783 crossref_primary_10_1016_j_annder_2017_06_005 crossref_primary_10_1016_j_piel_2016_02_014 crossref_primary_10_1016_j_jdcr_2016_07_001 crossref_primary_10_1016_j_ydbio_2024_05_010 crossref_primary_10_3389_fendo_2020_00165 crossref_primary_10_1097_DAD_0000000000001579 crossref_primary_10_1002_ajmg_c_31473 crossref_primary_10_1186_s13023_021_02068_w |
| Cites_doi | 10.1002/humu.20992 10.1111/pde.12031 10.1111/j.1525-1470.2010.01209.x 10.1111/j.1365-4362.1979.tb04471.x 10.1111/j.1365-4632.2009.04077.x 10.1111/j.1399-0004.1975.tb00336.x 10.1002/ajmg.1320400317 10.1001/archderm.1992.01680180072008 10.1038/ng2052 10.1038/ng2057 10.1097/00019605-200210000-00009 10.1136/jmg.2009.068403 10.1001/archderm.1962.01590120006002 10.1016/S0190-9622(81)70027-6 10.1111/j.1468-3083.2010.03782.x 10.1080/000155501750376410 10.3928/0191-3913-19821101-08 10.1016/S0190-9622(83)70157-X 10.1016/0190-9622(91)70274-6 |
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| Copyright | 2014 The International Society of Dermatology 2014 The International Society of Dermatology. |
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| References_xml | – volume: 30 start-page: 476 year: 2013 end-page: 479 article-title: Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome publication-title: Pediatr Dermatol – volume: 39 start-page: 833 year: 2007 end-page: 835 article-title: Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia publication-title: Nat Genet – volume: 81 start-page: 218 year: 2001 end-page: 219 article-title: Focal dermal hypoplasia syndrome in a male publication-title: Acta Derm Venereol – volume: 31 start-page: 37 year: 1978 end-page: 39 article-title: Focal dermal hypoplasia (Goltz syndrome) in a male publication-title: Acta Paediatr Belg – volume: 39 start-page: 836 year: 2007 end-page: 838 article-title: Mutations in X‐linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia publication-title: Nat Genet – volume: 69 start-page: 232 year: 1976 end-page: 233 article-title: Focal dermal hypoplasia publication-title: Proc R Soc Med – volume: 30 start-page: E618 year: 2009 end-page: E628 article-title: PORCN mutations in focal dermal hypoplasia; coping with lethality publication-title: Hum Mutat – volume: 21 start-page: 41 year: 2010 end-page: 47 article-title: Aplasia cutis congenital associated with Goltz syndrome in a male neonate publication-title: Genet Couns – volume: 18 start-page: 812 year: 1979 end-page: 815 article-title: Focal dermal hypoplasia in a 46, XY male publication-title: Int J Dermatol – volume: 4 start-page: 273 year: 1981 end-page: 277 article-title: Focal dermal hypoplasia in a father and daughter publication-title: J Am Acad Dermatol – volume: 46 start-page: 716 year: 2009 end-page: 720 article-title: Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome publication-title: J Med Genet – volume: 123 start-page: 263 year: 1972 article-title: Goltz's syndrome publication-title: Am J Dis Child – volume: 19 start-page: 314 year: 1982 end-page: 317 article-title: Focal dermal hypoplasia: ocular manifestations in a male publication-title: J Pediatr Ophthalmol Strabismus – volume: 128 start-page: 1078 year: 1992 end-page: 1082 article-title: Focal dermal hypoplasia syndrome in a male patient. Report of a case and histologic and immunohistochemical studies publication-title: Arch Dermatol – volume: 48 start-page: 1116 year: 2009 end-page: 1118 article-title: Goltz syndrome in a moderately affected newborn boy publication-title: Int J Dermatol – volume: 7 start-page: 325 year: 1975 end-page: 327 article-title: Focal dermal hypoplasia syndrome in a male publication-title: Clin Genet – volume: 11 start-page: 277 year: 2002 end-page: 281 article-title: A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS publication-title: Clin Dysmorphol – volume: 40 start-page: 332 year: 1991 end-page: 337 article-title: Father‐to‐daughter transmission of focal dermal hypoplasia associated with nonrandom X‐inactivation: support for X‐linked inheritance and paternal X chromosome mosaicism publication-title: Am J Med Genet – volume: 50 start-page: 554 year: 1976 end-page: 555 article-title: Focal dermal hypoplasia (Goltz syndrome) in a male. A case report publication-title: S Afr Med J – volume: 25 start-page: 879 issue: Part 2 year: 1991 end-page: 881 article-title: Minimal focal dermal hypoplasia in a man: a case of father‐to‐daughter transmission publication-title: J Am Acad Dermatol – volume: 28 start-page: 550 year: 2011 end-page: 554 article-title: Survival of a male mosaic for mutation with mild focal dermal hypoplasia phenotype publication-title: Pediatr Dermatol – volume: 86 start-page: 708 year: 1962 end-page: 717 article-title: Focal dermal hypoplasia publication-title: Arch Dermatol – volume: 43 start-page: 421 year: 1963 end-page: 440 article-title: Focal dermal hypoplasia syndrome publication-title: Acta Derm Venereol – volume: 111 start-page: 829 year: 1984 end-page: 830 article-title: Unilateral Goltz syndrome in a boy publication-title: Ann Dermatol Venereol – volume: 9 start-page: 443 year: 1983 end-page: 451 article-title: Focal dermal hypoplasia syndrome. 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A case report publication-title: S Afr Med J contributor: fullname: Feinberg A |
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| Snippet | Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia,... G oltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia,... |
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| SubjectTerms | Abnormalities, Multiple - genetics Acyltransferases Fingers - abnormalities Focal Dermal Hypoplasia - genetics Humans Infant, Newborn Male Membrane Proteins - genetics Mosaicism Mutation Syndactyly - genetics Toes - abnormalities |
| Title | Goltz syndrome and PORCN mosaicism |
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