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A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.
Arch Dermatol. 2012 Jan; 148(1):85-8.AD

Abstract

BACKGROUND

Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that are secondary to mutations in the PORCN gene. To our knowledge, only 5 cases of focal dermal hypoplasia with unilateral presentation have been reported, and molecular studies were not performed in any of the cases.

OBSERVATIONS

A 17-year-old girl was seen with features of almost unilateral focal dermal hypoplasia. These included left cleft hand, dental dysplasia, left mammary hypoplasia, deviation of the sacral line, raspberrylike papillomas in the perianal region, syndactyly of the second and third digits of the left foot, and linear streaks of dermal hypoplasia and pigmented lesions on her left hemibody.

CONCLUSIONS

Mutation analysis of PORCN revealed a novel heterozygous mutation in exon 10, c.854-855insACCTGAC; [p.T285fsX316], resulting in a premature stop signal. Analysis of the X-chromosome inactivation status was performed on blood and skin DNA samples, showing random inactivation in blood and unaffected skin and skewed inactivation in affected skin, highlighting the role of X-chromosome inactivation in X-linked disease expression.

Authors+Show Affiliations

Laboratoire Associé Institut National de la Santé et de la Récherche Médicale Unité Mixte de Récherche en Santé 910, Université Saint Joseph, Beirut, Lebanon.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22250236

Citation

Maalouf, Diane, et al. "A Novel Mutation in the PORCN Gene Underlying a Case of Almost Unilateral Focal Dermal Hypoplasia." Archives of Dermatology, vol. 148, no. 1, 2012, pp. 85-8.
Maalouf D, Mégarbané H, Chouery E, et al. A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. Arch Dermatol. 2012;148(1):85-8.
Maalouf, D., Mégarbané, H., Chouery, E., Nasr, J., Badens, C., Lacoste, C., Grzeschik, K. H., & Mégarbané, A. (2012). A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. Archives of Dermatology, 148(1), 85-8. https://doi.org/10.1001/archdermatol.2011.343
Maalouf D, et al. A Novel Mutation in the PORCN Gene Underlying a Case of Almost Unilateral Focal Dermal Hypoplasia. Arch Dermatol. 2012;148(1):85-8. PubMed PMID: 22250236.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. AU - Maalouf,Diane, AU - Mégarbané,Hala, AU - Chouery,Eliane, AU - Nasr,Joanna, AU - Badens,Catherine, AU - Lacoste,Caroline, AU - Grzeschik,Karl-Heinz, AU - Mégarbané,André, PY - 2012/1/18/entrez PY - 2012/1/18/pubmed PY - 2012/3/7/medline SP - 85 EP - 8 JF - Archives of dermatology JO - Arch Dermatol VL - 148 IS - 1 N2 - BACKGROUND: Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that are secondary to mutations in the PORCN gene. To our knowledge, only 5 cases of focal dermal hypoplasia with unilateral presentation have been reported, and molecular studies were not performed in any of the cases. OBSERVATIONS: A 17-year-old girl was seen with features of almost unilateral focal dermal hypoplasia. These included left cleft hand, dental dysplasia, left mammary hypoplasia, deviation of the sacral line, raspberrylike papillomas in the perianal region, syndactyly of the second and third digits of the left foot, and linear streaks of dermal hypoplasia and pigmented lesions on her left hemibody. CONCLUSIONS: Mutation analysis of PORCN revealed a novel heterozygous mutation in exon 10, c.854-855insACCTGAC; [p.T285fsX316], resulting in a premature stop signal. Analysis of the X-chromosome inactivation status was performed on blood and skin DNA samples, showing random inactivation in blood and unaffected skin and skewed inactivation in affected skin, highlighting the role of X-chromosome inactivation in X-linked disease expression. SN - 1538-3652 UR - https://www.unboundmedicine.com/medline/citation/22250236/A_novel_mutation_in_the_PORCN_gene_underlying_a_case_of_almost_unilateral_focal_dermal_hypoplasia_ L2 - https://jamanetwork.com/journals/jamadermatology/fullarticle/10.1001/archdermatol.2011.343 DB - PRIME DP - Unbound Medicine ER -