Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly

Livia Garavelli; Graziella Simonte; Simonetta Rosato; Anita Wischmeijer; Enrico Albertini; Elisa Guareschi; Caterina Longo; Giuseppe Albertini; Chiara Gelmini; Chiara Greco; Stefania Errico; Marco Pavanello; Rudolf Happle; Sheila Unger; Andrea Superti-Furga; Karl-Heinz Grzeschik; Gustavo Savino

doi:10.1002/ajmg.a.35964

Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly

Livia Garavelli, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Enrico Albertini, Elisa Guareschi, Caterina Longo, Giuseppe Albertini, Chiara Gelmini, Chiara Greco, Stefania Errico, Marco Pavanello, Rudolf Happle, Sheila Unger, Andrea Superti-Furga, Karl-Heinz Grzeschik, Gustavo Savino

Risultato della ricerca: Contributo in rivista › Articolo in rivista

3 Citazioni (Scopus)

Abstract

Focal dermal hypoplasia (FDH; Goltz–Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder.

Lingua originale	English
pagine (da-a)	1750-1754
Numero di pagine	5
Rivista	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume	161A
DOI	https://doi.org/10.1002/ajmg.a.35964
Stato di pubblicazione	Pubblicato - 2013

Keywords

FDH
Goltz–Gorlin syndrome
PORCN gene
cystic malformation of the spinal cord
focal dermal hypoplasia

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10.1002/ajmg.a.35964

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Garavelli, L., Simonte, G., Rosato, S., Wischmeijer, A., Albertini, E., Guareschi, E., Longo, C., Albertini, G., Gelmini, C., Greco, C., Errico, S., Pavanello, M., Happle, R., Unger, S., Superti-Furga, A., Grzeschik, K.-H., & Savino, G. (2013). Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 161A, 1750-1754. https://doi.org/10.1002/ajmg.a.35964

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title = "Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly",

abstract = "Focal dermal hypoplasia (FDH; Goltz–Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder.",

keywords = "FDH, Goltz–Gorlin syndrome, PORCN gene, cystic malformation of the spinal cord, focal dermal hypoplasia, FDH, Goltz–Gorlin syndrome, PORCN gene, cystic malformation of the spinal cord, focal dermal hypoplasia",

author = "Livia Garavelli and Graziella Simonte and Simonetta Rosato and Anita Wischmeijer and Enrico Albertini and Elisa Guareschi and Caterina Longo and Giuseppe Albertini and Chiara Gelmini and Chiara Greco and Stefania Errico and Marco Pavanello and Rudolf Happle and Sheila Unger and Andrea Superti-Furga and Karl-Heinz Grzeschik and Gustavo Savino",

year = "2013",

doi = "10.1002/ajmg.a.35964",

language = "English",

volume = "161A",

pages = "1750--1754",

journal = "AMERICAN JOURNAL OF MEDICAL GENETICS. PART A",

issn = "1552-4825",

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Garavelli, L, Simonte, G, Rosato, S, Wischmeijer, A, Albertini, E, Guareschi, E, Longo, C, Albertini, G, Gelmini, C, Greco, C, Errico, S, Pavanello, M, Happle, R, Unger, S, Superti-Furga, A, Grzeschik, K-H & Savino, G 2013, 'Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly', AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 161A, pagg. 1750-1754. https://doi.org/10.1002/ajmg.a.35964

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AU - Garavelli, Livia

AU - Simonte, Graziella

AU - Rosato, Simonetta

AU - Wischmeijer, Anita

AU - Albertini, Enrico

AU - Guareschi, Elisa

AU - Longo, Caterina

AU - Albertini, Giuseppe

AU - Gelmini, Chiara

AU - Greco, Chiara

AU - Errico, Stefania

AU - Pavanello, Marco

AU - Happle, Rudolf

AU - Unger, Sheila

AU - Superti-Furga, Andrea

AU - Grzeschik, Karl-Heinz

AU - Savino, Gustavo

PY - 2013

Y1 - 2013

N2 - Focal dermal hypoplasia (FDH; Goltz–Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder.

AB - Focal dermal hypoplasia (FDH; Goltz–Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder.

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KW - Goltz–Gorlin syndrome

KW - PORCN gene

KW - cystic malformation of the spinal cord

KW - focal dermal hypoplasia

KW - FDH

KW - Goltz–Gorlin syndrome

KW - PORCN gene

KW - cystic malformation of the spinal cord

KW - focal dermal hypoplasia

UR - http://hdl.handle.net/10807/50508

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DO - 10.1002/ajmg.a.35964

M3 - Article

SN - 1552-4825

VL - 161A

SP - 1750

EP - 1754

JO - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

JF - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

ER -

Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly

Abstract

Keywords

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