Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway

Allanson, Judith; Kavamura, Ines; Neri, Giovanni; Noonan, Jacqueline A.; Poss, Alexis; Kerr, Bronwyn

doi:10.1016/j.ejmg.2007.09.002

Cited by 5 publications

(2 citation statements)

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“…The synonymous variant p.His12* is associated with an increased risk of bladder cancer (Johne et al., ), although this was not present in our patient. He showed deep palmar and plantar creases, hyperextensible joints and behavioural disorders, the typical features associated with CS (Allanson et al., ).…”

Section: Discussionmentioning

confidence: 99%

New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations

Hlinkova

Bertok

et al. 2015

Annals of Human Genetics

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We performed the genetic analysis of Rasopathy syndromes in patients from Central European by direct sequencing followed by next generation sequencing of genes associated with Rasopathies. All 51 patients harboured the typical features of Rasopathy syndromes. Thirty-five mutations were identified in the examined patients (22 in PTPN11, two in SOS1, one in RIT1, one in SHOC2, two in HRAS, three in BRAF, two in MAP2K1 and two in the NF1 gene). Two of them (p.Gly392Glu in the BRAF gene and p.Gln164Lys in the MAP2K1 gene) were novel with a potentially pathogenic effect on the structure of these proteins. Statistically significant differences in the presence of pulmonary stenosis (63.64% vs. 23.81%, P = 0.013897) and cryptorchidism (76.47% vs. 30%, P = 0.040224) were identified as the result of comparison of the prevalence of phenotypic features in patients with the phenotype of Noonan syndrome and mutation in the PTPN11 gene, with the prevalence of the same features in patients without PTPN11 mutation. Cryptorchidism as a statistically significant feature in our patients with PTPN11 mutation was not reported as significant in other European countries (Germany, Italy and Greece). The majority of mutations were clustered in exons 3 (45.45%), 8 (22.73%), and 13 (22.73%) of the PTPN11 gene.

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Section: Discussionmentioning

confidence: 99%

New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations

Hlinkova

Bertok

et al. 2015

Annals of Human Genetics

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“…It has been hypothesized that this distal phalangeal crease could be the result of a marked antenatal decrease in size of the fetal pads. [Allanson et al, 2007;Orstavik et al, 2007]. Chromosomal anomalies, such as trisomy 21, 18, 13, or Turner syndrome, often present very early on with an increased nuchal translucency, and then with dermatoglyphic changes [Katznelson and Goldman, 1982].…”

Section: Discussionmentioning

confidence: 98%

Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome

Lehalle

Williams

Siu

et al. 2011

American J of Med Genetics Pt A

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Pitt-Hopkins syndrome (PHS) is characterized by severe mental retardation, characteristic facial features including a wide mouth and intermittent overbreathing. It is due to abnormalities of the TCF4 gene at 18q21.1 and over 50 cases have now been reported in the literature. The clinical features overlap significantly with those of Angelman, Rett, and Mowat-Wilson syndromes. We have observed prominent fetal pads as a feature in several individuals with PHS and suggested that this is a useful clinical sign which helps to distinguish PHS from other conditions in the differential diagnosis and may guide genetic testing.

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