Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

Maas, Saskia M.; Lombardi, Maria; Essen, A. J. van; Wakeling, Emma; Castle, Bruce; Temple, I. Karen; Kumar, Vikrant; Writzl, Karin; Hennekam, Raoul C. M.

doi:10.1136/jmg.2009.068403

Cited by 74 publications

(81 citation statements)

References 27 publications

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“…Interestingly, all four patients with non‐mosaic PORCN mutations lacked skin manifestations but had other severe symptoms compatible with GS 20, 21. In addition, diaphragm abnormalities were detected in two patients, resembling previously reported cases with pentalogy of Cantrell 18, 22…”

Section: Discussionsupporting

confidence: 84%

“…The majority of surviving males can be explained by mosaicism for PORCN mutations that arise postzygotically during embryogenesis 16 or Klinefelter syndrome, since these males carry an additional X chromosome 5. There is no genotype‐phenotype correlation, which can be explained by random X‐inactivation in females or mosaicism 17, 18, 19. Of the 24 reported male patients, 19 are mosaics, one patient has Klinefelter syndrome, and four patients from two different families are non‐mosaics (Table 1).…”

Section: Discussionmentioning

confidence: 99%

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Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Frisk

Grandpeix-Guyodo

Silwerfeldt

et al. 2018

Clinical Case Reports

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Section: Discussionsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Frisk

Grandpeix-Guyodo

Silwerfeldt

et al. 2018

Clinical Case Reports

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“…Males may also survive in the setting of coexisting Klinefelter syndrome [4]. Familial cases are rare, but in some reports anticipation has been observed [5][6][7]. Even in familial cases the presentation can be quite variable [8].…”

Section: Discussionmentioning

confidence: 99%

Pharyngeal Presentation of Goltz Syndrome: A Case Report with Review of the Literature

DiSalvo

Oberman

Warrick

et al. 2015

Head and Neck Pathol

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Focal dermal hypoplasia (Goltz syndrome; GS) is an X-linked dominant disorder caused by a mutation in the porcupine homolog (PORCN) gene and is typically embryonically lethal for males. The presence of disease in males is usually the result of post-zygotic mutation, but may also be due to mosaicism. The presentation of this disorder is highly variable, but generally is characterized by cutaneous, skeletal, ocular, oral, dental, and aural defects. Cutaneous manifestations include foci of hypoplastic skin, abnormal pigmentation, and papillomatous growths. We present both the first case of a patient with GS related laryngeal obstruction due to papillary lymphoid hyperplasia in an adult, and the first case in a male patient. Clinical, histologic, and genetic features of the disease are discussed. Operative technique for management of the patient with pharyngeal lesions is detailed, and intraoperative photos are showcased. The challenge in airway evaluation and management is also highlighted as manifestations of GS are rarely encountered in the airway and can cause laryngeal obstruction.

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“…3 The combination of microphthalmia with CDH has also been reported because of deletions or variants in other genes or genomic loci. [4][5][6] Here, we investigated a familial case of syndromic microphthalmia in association with CDH, spina bifida and cardiac anomalies. To identify the cause, we performed exome sequencing on two affected male siblings and both parents, which identified a variant in the X-linked PORCN gene as the underlying cause.…”

Section: Introductionmentioning

confidence: 99%

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

et al. 2014

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Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microphthalmia and additional congenital anomalies including diaphragmatic hernia, spina bifida and cardiac defects. Surprisingly, we identified a maternally inherited variant in PORCN present in both males as well as in two female siblings. This represents the first finding of a PORCN variant in non-mosaic males affected with Goltz-Gorlin syndrome. The apparently asymptomatic mother showed extreme skewing of X-inactivation (90%), an asymptomatic female sibling showed skewing of 88%, and the second female sibling affected with cutis aplasia of the scalp showed X-inactivation considered within the normal range.

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Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

Cited by 74 publications

References 27 publications

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Pharyngeal Presentation of Goltz Syndrome: A Case Report with Review of the Literature

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

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