Molecular evidence of type 2 mosaicism in Gorlin syndrome
Summary We present a 12‐year‐old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since birth, ipsilateral, palmoplantar pits of rather large size distributed along Blaschko lines, and an ipsilateral odontogenic keratocyst. The pati...
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| Published in: | British journal of dermatology (1951) Vol. 169; no. 6; pp. 1342 - 1345 |
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| Main Authors: | , , , , , , , |
| Format: | Journal Article |
| Language: | English |
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| Abstract | Summary
We present a 12‐year‐old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since birth, ipsilateral, palmoplantar pits of rather large size distributed along Blaschko lines, and an ipsilateral odontogenic keratocyst. The patient and her father were heterozygous for a germline mutation in the form of a single‐base substitution in exon 18 of the PTCH1 gene. In the patient's lesional skin, a microdeletion in exon 3 of PTCH1 was detected, giving rise to a truncated protein. This additional mutation was ruled out in the contralateral skin and in blood lymphocytes, thus confirming its mosaic state. In this way we provide for the first time molecular proof of a type 2 segmental involvement of this autosomal dominant trait.
What's already known about this topic?
Gorlin syndrome may rarely occur in a segmental mosaic state.
What does this study add?
We present a patient with Gorlin syndrome and a superimposed, more severely affected mosaic area of her skin with Gorlin syndrome.
Molecular evidence of both germline and mosaic mutations in PTCH1 is provided. |
|---|---|
| AbstractList | Summary
We present a 12‐year‐old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since birth, ipsilateral, palmoplantar pits of rather large size distributed along Blaschko lines, and an ipsilateral odontogenic keratocyst. The patient and her father were heterozygous for a germline mutation in the form of a single‐base substitution in exon 18 of the PTCH1 gene. In the patient's lesional skin, a microdeletion in exon 3 of PTCH1 was detected, giving rise to a truncated protein. This additional mutation was ruled out in the contralateral skin and in blood lymphocytes, thus confirming its mosaic state. In this way we provide for the first time molecular proof of a type 2 segmental involvement of this autosomal dominant trait.
What's already known about this topic?
Gorlin syndrome may rarely occur in a segmental mosaic state.
What does this study add?
We present a patient with Gorlin syndrome and a superimposed, more severely affected mosaic area of her skin with Gorlin syndrome.
Molecular evidence of both germline and mosaic mutations in PTCH1 is provided. We present a 12-year-old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since birth, ipsilateral, palmoplantar pits of rather large size distributed along Blaschko lines, and an ipsilateral odontogenic keratocyst. The patient and her father were heterozygous for a germline mutation in the form of a single-base substitution in exon 18 of the PTCH1 gene. In the patient's lesional skin, a microdeletion in exon 3 of PTCH1 was detected, giving rise to a truncated protein. This additional mutation was ruled out in the contralateral skin and in blood lymphocytes, thus confirming its mosaic state. In this way we provide for the first time molecular proof of a type 2 segmental involvement of this autosomal dominant trait. |
| Author | Happle, R. Colmenero, I. Rivera, I. Requena, L. Bueno, E. Torrelo, A. González‐Sarmiento, R. Hernández‐Martín, A. |
| Author_xml | – sequence: 1 givenname: A. surname: Torrelo fullname: Torrelo, A. organization: Hospital del Niño Jesús – sequence: 2 givenname: A. surname: Hernández‐Martín fullname: Hernández‐Martín, A. organization: Hospital del Niño Jesús – sequence: 3 givenname: E. surname: Bueno fullname: Bueno, E. organization: Universidad de Salamanca‐CSIC – sequence: 4 givenname: I. surname: Colmenero fullname: Colmenero, I. organization: Hospital del Niño Jesús – sequence: 5 givenname: I. surname: Rivera fullname: Rivera, I. organization: Hospital del Niño Jesús – sequence: 6 givenname: L. surname: Requena fullname: Requena, L. organization: Fundación Jiménez Díaz – sequence: 7 givenname: R. surname: Happle fullname: Happle, R. organization: Freiburg University Medical Center – sequence: 8 givenname: R. surname: González‐Sarmiento fullname: González‐Sarmiento, R. organization: Universidad de Salamanca‐CSIC |
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| Cites_doi | 10.1172/JCI21791 10.1097/01.GIM.0000144188.15902.C4 10.1111/j.1365-2133.1985.tb02092.x 10.1159/000174103 10.1111/j.1365-2133.2011.10593.x 10.1001/archderm.1969.01610300091016 10.2340/00015555-0495 10.1016/S0001-7310(09)73171-0 10.1016/j.jaad.2010.12.010 10.1001/archderm.1997.03890480025004 10.1111/j.1525-1470.2010.01225.x 10.1038/ng0196-85 |
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| Keywords | Mosaicism Skin disease Basal cell nevus syndrome Molecular biology Dermatology Genetic disease |
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| References | 2009; 100 1985; 113 2004; 6 2011; 65 2012; 166 2008; 88 2004; 114 2011; 28 2009; 218 1997; 133 1969; 100 1996; 12 Gorlin (10.1111/bjd.12458-BIB0005|bjd12458-cit-0005) 2004; 6 Waxweiler (10.1111/bjd.12458-BIB0012|bjd12458-cit-0012) 2011; 65 Happle (10.1111/bjd.12458-BIB0001|bjd12458-cit-0001) 1997; 133 Poblete-Gutiérrez (10.1111/bjd.12458-BIB0003|bjd12458-cit-0003) 2004; 114 Boccaletti (10.1111/bjd.12458-BIB0011|bjd12458-cit-0011) 2011; 28 Shelley (10.1111/bjd.12458-BIB0006|bjd12458-cit-0006) 1969; 100 Happle (10.1111/bjd.12458-BIB0002|bjd12458-cit-0002) 2009; 100 Fölster-Holst (10.1111/bjd.12458-BIB0004|bjd12458-cit-0004) 2012; 166 Levanat (10.1111/bjd.12458-BIB0008|bjd12458-cit-0008) 1996; 12 Itin (10.1111/bjd.12458-BIB0010|bjd12458-cit-0010) 2009; 218 Camisa (10.1111/bjd.12458-BIB0007|bjd12458-cit-0007) 1985; 113 Happle (10.1111/bjd.12458-BIB0009|bjd12458-cit-0009) 2008; 88 |
| References_xml | – volume: 166 start-page: 464 year: 2012 end-page: 6 article-title: Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease publication-title: Br J Dermatol – volume: 100 start-page: 77 issue: Suppl. 1 year: 2009 end-page: 85 article-title: Superimposed segmental manifestation of both rare and common cutaneous disorders: a new paradigm publication-title: Actas Dermosifiliogr – volume: 114 start-page: 1467 year: 2004 end-page: 74 article-title: Allelic loss underlies type 2 segmental Hailey–Hailey disease, providing molecular confirmation of a novel genetic concept publication-title: J Clin Invest – volume: 28 start-page: 555 year: 2011 end-page: 60 article-title: Congenital systematized basaloid follicular hamartoma with microphthalmia and hemimegalencephaly publication-title: Pediatr Dermatol – volume: 65 start-page: e17 year: 2011 end-page: 19 article-title: A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome publication-title: J Am Acad Dermatol – volume: 12 start-page: 85 year: 1996 end-page: 7 article-title: A two‐hit model for developmental defects in Gorlin syndrome publication-title: Nat Genet – volume: 113 start-page: 365 year: 1985 end-page: 7 article-title: Naevoid basal‐cell carcinoma syndrome with unilateral neoplasms and pits publication-title: Br J Dermatol – volume: 218 start-page: 221 year: 2009 end-page: 5 article-title: Happle–Tinschert syndrome. Segmentally arranged basaloid follicular hamartomas, linear atrophoderma with hypo‐ and hyperpigmentation, enamel defects, ipsilateral hypertrichosis, and skeletal and cerebral anomalies publication-title: Dermatology – volume: 100 start-page: 741 year: 1969 end-page: 3 article-title: Quadrant distribution of basal cell nevi publication-title: Arch Dermatol – volume: 133 start-page: 1505 year: 1997 end-page: 9 article-title: A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity publication-title: Arch Dermatol – volume: 6 start-page: 530 year: 2004 end-page: 9 article-title: Nevoid basal cell carcinoma (Gorlin) syndrome publication-title: Genet Med – volume: 88 start-page: 382 year: 2008 end-page: 7 article-title: Segmentally arranged basaloid follicular hamartomas with osseous, and cerebral anomalies: a distinct syndrome publication-title: Acta Derm Venereol – volume: 114 start-page: 1467 year: 2004 ident: 10.1111/bjd.12458-BIB0003|bjd12458-cit-0003 article-title: Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept publication-title: J Clin Invest doi: 10.1172/JCI21791 contributor: fullname: Poblete-Gutiérrez – volume: 6 start-page: 530 year: 2004 ident: 10.1111/bjd.12458-BIB0005|bjd12458-cit-0005 article-title: Nevoid basal cell carcinoma (Gorlin) syndrome publication-title: Genet Med doi: 10.1097/01.GIM.0000144188.15902.C4 contributor: fullname: Gorlin – volume: 113 start-page: 365 year: 1985 ident: 10.1111/bjd.12458-BIB0007|bjd12458-cit-0007 article-title: Naevoid basal-cell carcinoma syndrome with unilateral neoplasms and pits publication-title: Br J Dermatol doi: 10.1111/j.1365-2133.1985.tb02092.x contributor: fullname: Camisa – volume: 218 start-page: 221 year: 2009 ident: 10.1111/bjd.12458-BIB0010|bjd12458-cit-0010 article-title: Happle-Tinschert syndrome. Segmentally arranged basaloid follicular hamartomas, linear atrophoderma with hypo- and hyperpigmentation, enamel defects, ipsilateral hypertrichosis, and skeletal and cerebral anomalies publication-title: Dermatology doi: 10.1159/000174103 contributor: fullname: Itin – volume: 166 start-page: 464 year: 2012 ident: 10.1111/bjd.12458-BIB0004|bjd12458-cit-0004 article-title: Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease publication-title: Br J Dermatol doi: 10.1111/j.1365-2133.2011.10593.x contributor: fullname: Fölster-Holst – volume: 100 start-page: 741 year: 1969 ident: 10.1111/bjd.12458-BIB0006|bjd12458-cit-0006 article-title: Quadrant distribution of basal cell nevi publication-title: Arch Dermatol doi: 10.1001/archderm.1969.01610300091016 contributor: fullname: Shelley – volume: 88 start-page: 382 year: 2008 ident: 10.1111/bjd.12458-BIB0009|bjd12458-cit-0009 article-title: Segmentally arranged basaloid follicular hamartomas with osseous, and cerebral anomalies: a distinct syndrome publication-title: Acta Derm Venereol doi: 10.2340/00015555-0495 contributor: fullname: Happle – volume: 100 start-page: 77 issue: Suppl. 1 year: 2009 ident: 10.1111/bjd.12458-BIB0002|bjd12458-cit-0002 article-title: Superimposed segmental manifestation of both rare and common cutaneous disorders: a new paradigm publication-title: Actas Dermosifiliogr doi: 10.1016/S0001-7310(09)73171-0 contributor: fullname: Happle – volume: 65 start-page: e17 year: 2011 ident: 10.1111/bjd.12458-BIB0012|bjd12458-cit-0012 article-title: A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome publication-title: J Am Acad Dermatol doi: 10.1016/j.jaad.2010.12.010 contributor: fullname: Waxweiler – volume: 133 start-page: 1505 year: 1997 ident: 10.1111/bjd.12458-BIB0001|bjd12458-cit-0001 article-title: A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity publication-title: Arch Dermatol doi: 10.1001/archderm.1997.03890480025004 contributor: fullname: Happle – volume: 28 start-page: 555 year: 2011 ident: 10.1111/bjd.12458-BIB0011|bjd12458-cit-0011 article-title: Congenital systematized basaloid follicular hamartoma with microphthalmia and hemimegalencephaly publication-title: Pediatr Dermatol doi: 10.1111/j.1525-1470.2010.01225.x contributor: fullname: Boccaletti – volume: 12 start-page: 85 year: 1996 ident: 10.1111/bjd.12458-BIB0008|bjd12458-cit-0008 article-title: A two-hit model for developmental defects in Gorlin syndrome publication-title: Nat Genet doi: 10.1038/ng0196-85 contributor: fullname: Levanat |
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We present a 12‐year‐old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since... We present a 12-year-old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since birth,... |
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| SubjectTerms | Basal Cell Nevus Syndrome - genetics Biological and medical sciences Child Dermatology Female Germ-Line Mutation - genetics Heterozygote Humans Medical sciences Mosaicism Mutation, Missense - genetics Patched Receptors Patched-1 Receptor Receptors, Cell Surface - genetics Skin Neoplasms - genetics Tumors of the skin and soft tissue. Premalignant lesions |
| Title | Molecular evidence of type 2 mosaicism in Gorlin syndrome |
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